Chapter 3 The New GeneticsAlma Villanueva, MACalifornia S.docxwalterl4
Chapter 3:
The New Genetics
Alma Villanueva, MA
California State University, Los Angeles
Overview
Genetic Code
The Beginning of Life
Male & Female
Twins
Genotype & Phenotype
Disorders
Genetic Counseling
Genetic Code
Cells
Basic unit of life
Trillions!
Nucleus
Chromosomes
Thread– like structures made up of DNA & protein
23 pairs
DNA (Deoxyribonucleic acid)
2 strands twisted in a double helix
Chemical composition of molecules that contain the genes
Contains all of the information required to build/maintain the cell
3
Genes
Small section of the chromosome
18,000 – 23,000 genes
Each gene provides a unique recipe to make a protein
4 bases
Code for your traits
A - adenine
T - thymine
C - cytosine
G – guanine
Only 4 possible pairs
A-T; T-A; C-G; G-C
http://mybrainnotes.com/brain-dna-behavior.html
4
Allele
A variation of a gene
Example: the gene for eye color has several variations (alleles); an allele for blue eye color or an allele for brown eyes
Everyone inherits alleles from sperm & ovum
Genetic diversity
Distinguishes each person
Allows the human species to adapt to pressures of the environment
Genome
Full set of genes with instructions to make a living organism
Genomes exist for each species
Video about Genes
5
The Beginning of Life
Two Parents, Millions of Gametes
Gamete
Reproductive cell
Sperm or Ovum
Each contains 23 pairs
Zygote
Cell formed with union of Sperm & Ovum
Produce a new individual with 23 chromosomes from each parent
Conception
http://predictingbabygender.info/tag/intercourse-timing/
Matching genes
Genotype
Organism’s entire genetic inheritance, or genetic potential.
Homozygous (same zygote)
Two genes of one pair that are exactly the same in every letter of their code
Heterozygous
Two genes of one pair that differ in some way
Usually not an issue
Male of Female?
Humans usually possess
46 chromosomes
44 autosomes and 2 sex chromosomes
SEX chromosome = 23rd pair
Female – XX
Male – XY
Mother’s contain X
Father’s may have X or Y
X chrom. Is larger & more genes
Y contain SRY,
making male hormones & organs
It's a girl!
Uncertain Sex
“ambiguous genitals,” = child's sex is not abundantly clear
a quick analysis of the chromosomes is needed, to make sure there are exactly 46 and to see whether the 23rd pair is XY or XX
shown here a baby boy (left) and girl (right).
Too Many Boys?
Is sex selection the parents’ right or a social wrong?
Preference for boys in many areas of world
Ways to prevent female birth
Inactivating X sperm before conception
In vitro fertilization (IVF)
Aborting XX fetuses
My Strength, My Daughter
slogan these girls in New Delhi are shouting at a demonstration against abortion of female fetuses in India
The current sex ratio of children in India suggests that this campaign has not convinced every couple.
New Cells
Within hours of conception
23 pairs of chromosomes carrying all the genes duplicate, forming two complete sets of the genome
Two sets.
Chapter 3 The New GeneticsAlma Villanueva, MACalifornia S.docxketurahhazelhurst
Chapter 3:
The New Genetics
Alma Villanueva, MA
California State University, Los Angeles
Overview
Genetic Code
The Beginning of Life
Male & Female
Twins
Genotype & Phenotype
Disorders
Genetic Counseling
Genetic Code
Cells
Basic unit of life
Trillions!
Nucleus
Chromosomes
Thread– like structures made up of DNA & protein
23 pairs
DNA (Deoxyribonucleic acid)
2 strands twisted in a double helix
Chemical composition of molecules that contain the genes
Contains all of the information required to build/maintain the cell
3
Genes
Small section of the chromosome
18,000 – 23,000 genes
Each gene provides a unique recipe to make a protein
4 bases
Code for your traits
A - adenine
T - thymine
C - cytosine
G – guanine
Only 4 possible pairs
A-T; T-A; C-G; G-C
http://mybrainnotes.com/brain-dna-behavior.html
4
Allele
A variation of a gene
Example: the gene for eye color has several variations (alleles); an allele for blue eye color or an allele for brown eyes
Everyone inherits alleles from sperm & ovum
Genetic diversity
Distinguishes each person
Allows the human species to adapt to pressures of the environment
Genome
Full set of genes with instructions to make a living organism
Genomes exist for each species
Video about Genes
5
The Beginning of Life
Two Parents, Millions of Gametes
Gamete
Reproductive cell
Sperm or Ovum
Each contains 23 pairs
Zygote
Cell formed with union of Sperm & Ovum
Produce a new individual with 23 chromosomes from each parent
Conception
http://predictingbabygender.info/tag/intercourse-timing/
Matching genes
Genotype
Organism’s entire genetic inheritance, or genetic potential.
Homozygous (same zygote)
Two genes of one pair that are exactly the same in every letter of their code
Heterozygous
Two genes of one pair that differ in some way
Usually not an issue
Male of Female?
Humans usually possess
46 chromosomes
44 autosomes and 2 sex chromosomes
SEX chromosome = 23rd pair
Female – XX
Male – XY
Mother’s contain X
Father’s may have X or Y
X chrom. Is larger & more genes
Y contain SRY,
making male hormones & organs
It's a girl!
Uncertain Sex
“ambiguous genitals,” = child's sex is not abundantly clear
a quick analysis of the chromosomes is needed, to make sure there are exactly 46 and to see whether the 23rd pair is XY or XX
shown here a baby boy (left) and girl (right).
Too Many Boys?
Is sex selection the parents’ right or a social wrong?
Preference for boys in many areas of world
Ways to prevent female birth
Inactivating X sperm before conception
In vitro fertilization (IVF)
Aborting XX fetuses
My Strength, My Daughter
slogan these girls in New Delhi are shouting at a demonstration against abortion of female fetuses in India
The current sex ratio of children in India suggests that this campaign has not convinced every couple.
New Cells
Within hours of conception
23 pairs of chromosomes carrying all the genes duplicate, forming two complete sets of the genome
Two sets ...
Chapter 3 The New GeneticsAlma Villanueva, MACalifornia S.docxwalterl4
Chapter 3:
The New Genetics
Alma Villanueva, MA
California State University, Los Angeles
Overview
Genetic Code
The Beginning of Life
Male & Female
Twins
Genotype & Phenotype
Disorders
Genetic Counseling
Genetic Code
Cells
Basic unit of life
Trillions!
Nucleus
Chromosomes
Thread– like structures made up of DNA & protein
23 pairs
DNA (Deoxyribonucleic acid)
2 strands twisted in a double helix
Chemical composition of molecules that contain the genes
Contains all of the information required to build/maintain the cell
3
Genes
Small section of the chromosome
18,000 – 23,000 genes
Each gene provides a unique recipe to make a protein
4 bases
Code for your traits
A - adenine
T - thymine
C - cytosine
G – guanine
Only 4 possible pairs
A-T; T-A; C-G; G-C
http://mybrainnotes.com/brain-dna-behavior.html
4
Allele
A variation of a gene
Example: the gene for eye color has several variations (alleles); an allele for blue eye color or an allele for brown eyes
Everyone inherits alleles from sperm & ovum
Genetic diversity
Distinguishes each person
Allows the human species to adapt to pressures of the environment
Genome
Full set of genes with instructions to make a living organism
Genomes exist for each species
Video about Genes
5
The Beginning of Life
Two Parents, Millions of Gametes
Gamete
Reproductive cell
Sperm or Ovum
Each contains 23 pairs
Zygote
Cell formed with union of Sperm & Ovum
Produce a new individual with 23 chromosomes from each parent
Conception
http://predictingbabygender.info/tag/intercourse-timing/
Matching genes
Genotype
Organism’s entire genetic inheritance, or genetic potential.
Homozygous (same zygote)
Two genes of one pair that are exactly the same in every letter of their code
Heterozygous
Two genes of one pair that differ in some way
Usually not an issue
Male of Female?
Humans usually possess
46 chromosomes
44 autosomes and 2 sex chromosomes
SEX chromosome = 23rd pair
Female – XX
Male – XY
Mother’s contain X
Father’s may have X or Y
X chrom. Is larger & more genes
Y contain SRY,
making male hormones & organs
It's a girl!
Uncertain Sex
“ambiguous genitals,” = child's sex is not abundantly clear
a quick analysis of the chromosomes is needed, to make sure there are exactly 46 and to see whether the 23rd pair is XY or XX
shown here a baby boy (left) and girl (right).
Too Many Boys?
Is sex selection the parents’ right or a social wrong?
Preference for boys in many areas of world
Ways to prevent female birth
Inactivating X sperm before conception
In vitro fertilization (IVF)
Aborting XX fetuses
My Strength, My Daughter
slogan these girls in New Delhi are shouting at a demonstration against abortion of female fetuses in India
The current sex ratio of children in India suggests that this campaign has not convinced every couple.
New Cells
Within hours of conception
23 pairs of chromosomes carrying all the genes duplicate, forming two complete sets of the genome
Two sets.
Chapter 3 The New GeneticsAlma Villanueva, MACalifornia S.docxketurahhazelhurst
Chapter 3:
The New Genetics
Alma Villanueva, MA
California State University, Los Angeles
Overview
Genetic Code
The Beginning of Life
Male & Female
Twins
Genotype & Phenotype
Disorders
Genetic Counseling
Genetic Code
Cells
Basic unit of life
Trillions!
Nucleus
Chromosomes
Thread– like structures made up of DNA & protein
23 pairs
DNA (Deoxyribonucleic acid)
2 strands twisted in a double helix
Chemical composition of molecules that contain the genes
Contains all of the information required to build/maintain the cell
3
Genes
Small section of the chromosome
18,000 – 23,000 genes
Each gene provides a unique recipe to make a protein
4 bases
Code for your traits
A - adenine
T - thymine
C - cytosine
G – guanine
Only 4 possible pairs
A-T; T-A; C-G; G-C
http://mybrainnotes.com/brain-dna-behavior.html
4
Allele
A variation of a gene
Example: the gene for eye color has several variations (alleles); an allele for blue eye color or an allele for brown eyes
Everyone inherits alleles from sperm & ovum
Genetic diversity
Distinguishes each person
Allows the human species to adapt to pressures of the environment
Genome
Full set of genes with instructions to make a living organism
Genomes exist for each species
Video about Genes
5
The Beginning of Life
Two Parents, Millions of Gametes
Gamete
Reproductive cell
Sperm or Ovum
Each contains 23 pairs
Zygote
Cell formed with union of Sperm & Ovum
Produce a new individual with 23 chromosomes from each parent
Conception
http://predictingbabygender.info/tag/intercourse-timing/
Matching genes
Genotype
Organism’s entire genetic inheritance, or genetic potential.
Homozygous (same zygote)
Two genes of one pair that are exactly the same in every letter of their code
Heterozygous
Two genes of one pair that differ in some way
Usually not an issue
Male of Female?
Humans usually possess
46 chromosomes
44 autosomes and 2 sex chromosomes
SEX chromosome = 23rd pair
Female – XX
Male – XY
Mother’s contain X
Father’s may have X or Y
X chrom. Is larger & more genes
Y contain SRY,
making male hormones & organs
It's a girl!
Uncertain Sex
“ambiguous genitals,” = child's sex is not abundantly clear
a quick analysis of the chromosomes is needed, to make sure there are exactly 46 and to see whether the 23rd pair is XY or XX
shown here a baby boy (left) and girl (right).
Too Many Boys?
Is sex selection the parents’ right or a social wrong?
Preference for boys in many areas of world
Ways to prevent female birth
Inactivating X sperm before conception
In vitro fertilization (IVF)
Aborting XX fetuses
My Strength, My Daughter
slogan these girls in New Delhi are shouting at a demonstration against abortion of female fetuses in India
The current sex ratio of children in India suggests that this campaign has not convinced every couple.
New Cells
Within hours of conception
23 pairs of chromosomes carrying all the genes duplicate, forming two complete sets of the genome
Two sets ...
Genes, Chromosomes, and Genetic Code: Relevance and ImplicationsJen Gragera
Genes are the thing that determines your unique traits from the inside out. They play an important role in your overall health but they can also make you more susceptible for certain health problems and diseases, in the first place those that run in your family. Most diseases are a result of a combination of multiple factors including dietary, lifestyle and environmental factors. However, it is also possible to develop health problems exclusively due to genetic abnormalities and mutations.
Genetic and Environmental FoundationsChapter 2.docxbudbarber38650
Genetic and Environmental Foundations
Chapter 2
Where do we start? What is inherited from our parents and their ancestors and what role does environment contribute? These are but a few of the questions that this chapter will explore.
1
Heredity
DNA
Chromosomes
Genes
Meiosis
Mitosis
Heredity defines one’s nature – which based on the biological transmission of traits and characteristics from one generation to another. The structures we inherit both make our behaviors possible and places limits on them.
Genetic (inherited) influences are fundamental in the transmission of physical traits, such as height, hair texture, and eye color. Genetics also appears to be a factor in intelligence and in the origins of personality traits such as activity level, sociability, shyness, fearfulness etc. Genetic influences are also implicated in psychological problems and disorders such as anxiety and depression, dependence on nicotine and alcohol etc.
Chromosomes and genes – rod shaped structures found in cells. A normal human cell contains 46 chromosomes organized into 23 pairs. Each chromosome contains thousands of segments called genes. Genes carry the biochemical materials that regulate the development of traits. Polygenic – some traits are determined by the combination of pairs of genes.
We begin life as a single cell or zygote. There are 2 types of cell division.
Mitosis – cell division process by which growth occurs and tissues are replaced. Through mitosis, genetic code is carried into new cells in our bodies.
Sperm and ova are produced through meiosis, or reduction division. In meiosis the 46 chromosomes within the cell first line up into 23 pairs. The DNA ladders then unzip, leaving unpaired chromosome halves. As a consequence each new cell only contains 23 chromosomes.
2
Fertilization
Union of egg and sperm
Zygote
Union of egg and sperm - please note sperm with y sex chromosomes seem to swim faster then x one of the reason more boys are conceived then girls. Male fetuses suffer higher rate of spontaneous abortion usually during the first month of pregnancy. Boys also higher rate of infant mortality
The resulting fertilized egg is called a zygote.
3
Male or Female
Autosomes
Twenty-third pair (sex chromosomes)
XX
XY
When a sperm cell fertilizes an ovum we receive 23 from each which combine for the 23 pairs. Twenty-two of the pairs are autosomes – pair that look alike and possess genetic information concerning the same set of traits.
The 23rd pair consists of the sex chromosomes which look different and determine our sex. Males are XY and females are XX
4
Multiple Births
How they occur
Dizygotic twins
Monozygotic twins
Monozygotic or identical twins – one egg fertilized and then the zygote divides into 2.
Dizygotic twins – two eggs fertilized by different sperm.
MZ twins occur with equal frequency in all ethnic groups – but for DZ incidence does vary. European Americans.
2024.06.01 Introducing a competency framework for languag learning materials ...Sandy Millin
http://sandymillin.wordpress.com/iateflwebinar2024
Published classroom materials form the basis of syllabuses, drive teacher professional development, and have a potentially huge influence on learners, teachers and education systems. All teachers also create their own materials, whether a few sentences on a blackboard, a highly-structured fully-realised online course, or anything in between. Despite this, the knowledge and skills needed to create effective language learning materials are rarely part of teacher training, and are mostly learnt by trial and error.
Knowledge and skills frameworks, generally called competency frameworks, for ELT teachers, trainers and managers have existed for a few years now. However, until I created one for my MA dissertation, there wasn’t one drawing together what we need to know and do to be able to effectively produce language learning materials.
This webinar will introduce you to my framework, highlighting the key competencies I identified from my research. It will also show how anybody involved in language teaching (any language, not just English!), teacher training, managing schools or developing language learning materials can benefit from using the framework.
Genes, Chromosomes, and Genetic Code: Relevance and ImplicationsJen Gragera
Genes are the thing that determines your unique traits from the inside out. They play an important role in your overall health but they can also make you more susceptible for certain health problems and diseases, in the first place those that run in your family. Most diseases are a result of a combination of multiple factors including dietary, lifestyle and environmental factors. However, it is also possible to develop health problems exclusively due to genetic abnormalities and mutations.
Genetic and Environmental FoundationsChapter 2.docxbudbarber38650
Genetic and Environmental Foundations
Chapter 2
Where do we start? What is inherited from our parents and their ancestors and what role does environment contribute? These are but a few of the questions that this chapter will explore.
1
Heredity
DNA
Chromosomes
Genes
Meiosis
Mitosis
Heredity defines one’s nature – which based on the biological transmission of traits and characteristics from one generation to another. The structures we inherit both make our behaviors possible and places limits on them.
Genetic (inherited) influences are fundamental in the transmission of physical traits, such as height, hair texture, and eye color. Genetics also appears to be a factor in intelligence and in the origins of personality traits such as activity level, sociability, shyness, fearfulness etc. Genetic influences are also implicated in psychological problems and disorders such as anxiety and depression, dependence on nicotine and alcohol etc.
Chromosomes and genes – rod shaped structures found in cells. A normal human cell contains 46 chromosomes organized into 23 pairs. Each chromosome contains thousands of segments called genes. Genes carry the biochemical materials that regulate the development of traits. Polygenic – some traits are determined by the combination of pairs of genes.
We begin life as a single cell or zygote. There are 2 types of cell division.
Mitosis – cell division process by which growth occurs and tissues are replaced. Through mitosis, genetic code is carried into new cells in our bodies.
Sperm and ova are produced through meiosis, or reduction division. In meiosis the 46 chromosomes within the cell first line up into 23 pairs. The DNA ladders then unzip, leaving unpaired chromosome halves. As a consequence each new cell only contains 23 chromosomes.
2
Fertilization
Union of egg and sperm
Zygote
Union of egg and sperm - please note sperm with y sex chromosomes seem to swim faster then x one of the reason more boys are conceived then girls. Male fetuses suffer higher rate of spontaneous abortion usually during the first month of pregnancy. Boys also higher rate of infant mortality
The resulting fertilized egg is called a zygote.
3
Male or Female
Autosomes
Twenty-third pair (sex chromosomes)
XX
XY
When a sperm cell fertilizes an ovum we receive 23 from each which combine for the 23 pairs. Twenty-two of the pairs are autosomes – pair that look alike and possess genetic information concerning the same set of traits.
The 23rd pair consists of the sex chromosomes which look different and determine our sex. Males are XY and females are XX
4
Multiple Births
How they occur
Dizygotic twins
Monozygotic twins
Monozygotic or identical twins – one egg fertilized and then the zygote divides into 2.
Dizygotic twins – two eggs fertilized by different sperm.
MZ twins occur with equal frequency in all ethnic groups – but for DZ incidence does vary. European Americans.
2024.06.01 Introducing a competency framework for languag learning materials ...Sandy Millin
http://sandymillin.wordpress.com/iateflwebinar2024
Published classroom materials form the basis of syllabuses, drive teacher professional development, and have a potentially huge influence on learners, teachers and education systems. All teachers also create their own materials, whether a few sentences on a blackboard, a highly-structured fully-realised online course, or anything in between. Despite this, the knowledge and skills needed to create effective language learning materials are rarely part of teacher training, and are mostly learnt by trial and error.
Knowledge and skills frameworks, generally called competency frameworks, for ELT teachers, trainers and managers have existed for a few years now. However, until I created one for my MA dissertation, there wasn’t one drawing together what we need to know and do to be able to effectively produce language learning materials.
This webinar will introduce you to my framework, highlighting the key competencies I identified from my research. It will also show how anybody involved in language teaching (any language, not just English!), teacher training, managing schools or developing language learning materials can benefit from using the framework.
Unit 8 - Information and Communication Technology (Paper I).pdfThiyagu K
This slides describes the basic concepts of ICT, basics of Email, Emerging Technology and Digital Initiatives in Education. This presentations aligns with the UGC Paper I syllabus.
The Art Pastor's Guide to Sabbath | Steve ThomasonSteve Thomason
What is the purpose of the Sabbath Law in the Torah. It is interesting to compare how the context of the law shifts from Exodus to Deuteronomy. Who gets to rest, and why?
Model Attribute Check Company Auto PropertyCeline George
In Odoo, the multi-company feature allows you to manage multiple companies within a single Odoo database instance. Each company can have its own configurations while still sharing common resources such as products, customers, and suppliers.
Welcome to TechSoup New Member Orientation and Q&A (May 2024).pdfTechSoup
In this webinar you will learn how your organization can access TechSoup's wide variety of product discount and donation programs. From hardware to software, we'll give you a tour of the tools available to help your nonprofit with productivity, collaboration, financial management, donor tracking, security, and more.
We all have good and bad thoughts from time to time and situation to situation. We are bombarded daily with spiraling thoughts(both negative and positive) creating all-consuming feel , making us difficult to manage with associated suffering. Good thoughts are like our Mob Signal (Positive thought) amidst noise(negative thought) in the atmosphere. Negative thoughts like noise outweigh positive thoughts. These thoughts often create unwanted confusion, trouble, stress and frustration in our mind as well as chaos in our physical world. Negative thoughts are also known as “distorted thinking”.
Operation “Blue Star” is the only event in the history of Independent India where the state went into war with its own people. Even after about 40 years it is not clear if it was culmination of states anger over people of the region, a political game of power or start of dictatorial chapter in the democratic setup.
The people of Punjab felt alienated from main stream due to denial of their just demands during a long democratic struggle since independence. As it happen all over the word, it led to militant struggle with great loss of lives of military, police and civilian personnel. Killing of Indira Gandhi and massacre of innocent Sikhs in Delhi and other India cities was also associated with this movement.
Palestine last event orientationfvgnh .pptxRaedMohamed3
An EFL lesson about the current events in Palestine. It is intended to be for intermediate students who wish to increase their listening skills through a short lesson in power point.
2. The Evolutionary Perspective
Natural selection is the evolutionary process by which
those individuals of a species that are best adapted
are the ones that survive and leave the fittest
offspring.
The best-adapted individuals survive to leave the
most offspring. Over the course of many generations,
organisms with the characteristics needed for survival
make up an increasing percentage of the population.
Evolutionary psychology - emphasizes the importance
of adaptation, reproduction, and “survival of the fittest”
in shaping behavior.
“Fit” in this sense refers to the ability to bear offspring
that survive long enough to bear offspring of their
own.
3. Heredity
Genes are specific sequence of nucleotides and are
recipes for making proteins. Proteins are responsible for
influencing the structure and functions of cells.
They are uniquely coded segment of DNA in a
chromosome that affects one or more specific body
processes or developments.
Normal human cells contain 46 chromosomes (or 23 pairs;
one from each parent) in the nucleus of the cells. After
conception, most cells of the body are created by a process
called mitosis.
Mitosis is defined as the cell’s nucleus making an exact copy
of all the chromosomes and splitting into two new cells.
In meiosis, the gamete’s chromosomes duplicate, and then
divide twice resulting in four cells containing only half the
genetic material of the original gamete. Thus, each sperm and
egg possesses only 23 chromosomes and combine to produce
the normal 46.
4. Of the 23 pairs of chromosomes
created at conception, 22 pairs
are similar in length. These are
called autosomes. The remaining
pair, or sex chromosomes, may
differ in length.
If a child receives the combination
of XY the child will be genetically
male. If the child receives the
combination XX the child will be
genetically female.
5. Genotypes and Phenotypes
Genotype refers to the sum total of all the genes a person inherits
Phenotype refers to the features that are actually expressed
Because genes are inherited in pairs on the chromosomes, we may receive either the same
version of a gene from our mother and father, that is, homozygous gene influences.
If we receive a different version of the gene from each parent, that is referred to as
heterozygous.
Dominant genes express themselves in the phenotype even when paired with a different version
of the gene
Recessive genes express themselves only when paired with a similar version gene. Geneticists
refer to different versions of a gene as alleles.
6. Monozygotic and
Dizygotic Twins
Monozygotic or identical twins
occur when a fertilized egg splits
apart in the first two weeks of
development. The result is the
creation of two separate, but
genetically identical offspring.
Dizygotic or fraternal twins occur
when two eggs or ova are released
and fertilized by two separate sperm.
These two individuals share the same
amount of genetic material as would
any two children from the same
mother and father.
7. Genetic Disorders
Most of the known genetic disorders are dominant gene-linked; however, the
vast majority of dominant gene linked disorders are not serious or debilitating.
Some genetic disorders are sex-linked; the defective gene is found on the X-
chromosome. Males have only one X chromosome so are at greater risk for
sex-linked disorders due to a recessive gene, such as hemophilia, color-
blindness, and baldness. For females to be affected by the genetic defects,
they need to inherit the recessive gene on both X-chromosomes, but if the
defective gene is dominant, females can be equally at risk.
8. Genetic Disorders
Recessive Disorders (Homozygous): The individual inherits a gene change from both
parents. If the gene is inherited from just one parent, the person is a carrier and does
not have the condition.
• Sickle Cell Disease (SCD) is a condition in which the red blood cells in the body are
shaped like a sickle (like the letter C) and affect the ability of the blood to transport
oxygen. Carriers may experience some effects, but do not have the full condition.
• Cystic Fibrosis (CF) is a condition that affects breathing and digestion due to thick
mucus building up in the body, especially the lungs and digestive system. In CF, the
mucus is thicker than normal and sticky.
• Phenylketonuria (PKU) is a metabolic disorder in which the individual cannot
metabolize phenylalanine, an amino acid. Left untreated intellectual deficits occur.
PKU is easily detected and is treated with a special diet.
9. Genetic Disorders
• Tay Sachs Disease is caused by
enzyme deficiency resulting in the
accumulation of lipids in the nerve
cells of the brain.
• Albinism is when the individual
lacks melanin and possesses little
to no pigment in the skin, hair, and
eyes. Vision problems can also
occur.
10. Genetic Disorders
Sex-Linked Disorders: When the X chromosome carries the mutated gene, the disorder
is referred to as an X-linked disorder. Males are more affected than females because
they possess only one X chromosome without an additional X chromosome to counter
the harmful gene
• Fragile X Syndrome occurs when the body cannot make enough of a protein it needs
for the brain to grow and problems with learning and behavior can occur
• Hemophilia occurs when there are problems in blood clotting causing both internal
and external bleeding.
• Duchenne Muscular Dystrophy is a weakening of the muscles resulting in an
inability to move, wasting away, and possible death.
11. Chromosomal Abnormalities
A chromosomal abnormality occurs when a child inherits too many or two few
chromosomes.
The most common cause of chromosomal abnormalities is the age of the mother. As the
mother ages, the ovum is more likely to suffer abnormalities due to longer term exposure to
environmental factors. Consequently, some gametes do not divide evenly when they are
forming. Therefore, some cells have more than 46 chromosomes.
In fact, it is believed that close to half of all zygotes have an odd number of chromosomes.
Most of these zygotes fail to develop and are spontaneously aborted by the mother’s body.
12. Autosomal Chromosome Disorders: The individual
inherits too many or two few chromosomes.
• Down Syndrome/Trisomy 21 is caused by an extra
chromosome 21 and includes a combination of birth
defects. Affected individuals have some degree of
intellectual disability, characteristic facial features, often
heart defects, and other health problems. The severity
varies greatly among affected individuals.
• Trisomy 13 is caused by an extra chromosome 13.
Affected individuals have multiple birth defects and
generally die in the first weeks or months of life.
• Trisomy 18 is caused by an extra chromosome 18 and
the affected individual also has multiple birth defects and
early death.
13. Sex-Linked Chromosomal Disorders: The disorder
occurs on chromosome pair #23 or the sex
chromosomes
• Turner Syndrome is caused when all or part of one
of the X chromosomes is lost before or soon after
conception due to a random event. The resulting
zygote has an XO composition. Turner Syndrome
affects cognitive functioning and sexual maturation
in girls. Infertility and a short stature may be noted.
• Klinefelter Syndrome is caused when an extra X
chromosome is present in the cells of a male due to
a random event. The Y chromosome stimulates the
growth of male genitalia, but the additional X
chromosome inhibits this development. The male
can have some breast development, infertility, and
low levels of testosterone.
14. Genetic Counseling - a service that assists individuals identify, test for,
and explain potential genetic conditions that could adversely affect
themselves or their offspring is referred to as genetic counseling. The
common reasons for genetic counseling include:
• Family history of a genetic condition
• Membership in a certain ethnic group with a higher risk of a genetic
condition
• Information regarding the results of genetic testing, including blood
tests, amniocentesis, or ultra sounds
• Learning about the chances of having a baby with a genetic condition if
the parents are older, have had several miscarriages, have offspring
with birth defects, experience infertility, or have a medical condition
15. Behavioral Genetics is the scientific study of
the interplay between the genetic and
environmental contributions to behavior.
Research has shown how the environment and
genotype interact in several ways.
Genotype-Environment Correlations refer to
the processes by which genetic factors
contribute to variations in the environment.
There are three types of genotype-environment
correlations
16. Passive genotype-environment correlation
occurs when children passively inherit the genes
and the environments their family provides.
Evocative genotype-environment correlation
refers to how the social environment reacts to
individuals based on their inherited characteristics.
Active genotype-environment correlation occurs
when individuals seek out environments that
support their genetic tendencies. This is also
referred to as niche picking.
18. The Germinal Period
• The germinal period (about 14 days in length) lasts
from conception to implantation of the fertilized egg
in the lining of the uterus
• Fertilization happens at the top section of the
fallopian tube and continues its journey to the
uterus. As a result, a new cell is formed. This cell,
containing the combined genetic information from
both parents, is referred to as a zygote.
• During this time, the organism begins cell division
through mitosis. After five days of mitosis there are
100 cells, which is now called a blastocyst. The
blastocyst consists of both an inner and outer
group of cells. The inner group of cells, or
embryonic disk will become the embryo, while the
outer group of cells, or trophoblast, becomes the
support system which nourishes the developing
organism.
19. The Embryonic Period
◦ Starting the third week the blastocyst has implanted in the uterine wall. Upon
implantation this multi-cellular organism is called an embryo.
◦ The placenta is a structure connected to the uterus that provides nourishment
and oxygen from the mother to the developing embryo via the umbilical cord.
◦ During this period, cells continue to differentiate. Growth during prenatal
development occurs in two major directions: from head to tail called
cephalocaudal development and from the midline outward referred to as
proximodistal development.
◦ The head develops in the fourth week and the precursor to the heart begins to
pulse. In the early stages of the embryonic period, gills and a tail are apparent.
However, by the end of this stage they disappear and the organism takes on a
more human appearance.
◦ The embryo is approximately 1 inch in length and weighs about 8 grams at the
end of eight weeks. The embryo can move and respond to touch at this time.
20. The Fetal Period
• From the ninth week until birth, the organism is referred to as a fetus.
• By the third month, the fetus has all its body parts including external genitalia.
In the following weeks, the fetus will develop hair, nails, teeth and the
excretory and digestive systems will continue to develop. The fetus is about 3
inches long and weighs about 28 grams.
• During the 4th - 6th months, the eyes become more sensitive to light and
hearing develops. The respiratory system continues to develop, and reflexes
such as sucking, swallowing and hiccupping, develop during the 5th month
• The first chance of survival outside the womb, known as the age of viability is
reached at about 24 weeks
21. The Fetal Period
• Between the 7th - 9th months, the fetus is
primarily preparing for birth. It is exercising its
muscles and its lungs begin to expand and
contract.
• The fetus gains about 5 pounds and 7 inches
during this last trimester of pregnancy, and
during the 8th month a layer of fat develops
under the skin.
• At around 36 weeks the fetus is almost ready for
birth. It weighs about 6 pounds and is about 18.5
inches long. By week 37 all of the fetus’s organ
systems are developed enough that it could
survive outside the mother’s uterus without many
of the risks associated with premature birth.
22. Fetal Sensory Capacities
◦ Sensing motion
◦ Sense of balance at 5 months
◦ Vision
◦ Responds to light (i.e., heart
rate changes, increased
movement) at 26 weeks
◦ Sound
◦ Responds at 5-6 months
◦ Can discriminate outside sounds, but hears mother’s
voice best (i.e., changes in heart rate)
23. Complications of Pregnancy
◦ Minor complications: There are a number of common side effects of pregnancy. Not
everyone experiences all of these, nor to the same degree. And although they are
considered "minor" this is not to say that these problems are not potentially very
uncomfortable. These side effects include nausea (particularly during the first 3-4
months of pregnancy as a result of higher levels of estrogen in the system), heartburn,
gas, hemorrhoids, backache, leg cramps, insomnia, constipation, shortness of breath
or varicose veins (as a result of carrying a heavy load on the abdomen).
◦ Major Complications: The following are some serious complications of pregnancy
which can pose health risks to mother and child and that often require hospitalization.
24. Complications of Pregnancy
• Ectopic Pregnancy occurs when the zygote becomes attached to the
fallopian tube before reaching the uterus. Abdominal pain, vaginal
bleeding, nausea and fainting are symptoms of ectopic pregnancy.
• Preeclampsia, also known as Toxemia, is characterized by a sharp rise
in blood pressure, a leakage of protein into the urine as a result of
kidney problems, and swelling of the hands, feet, and face during the
third trimester of pregnancy.
25. Consequences of Premature Birth
◦ Immaturity of the lungs is the leading cause of death for preemies.
They can also have digestion and immunity problems
◦ Premature babies who are normal size for their gestational age
stand a good chance of catching up with full-term babies
◦ Some children born prematurely have problems maintaining
attention and with visual-motor coordination when they are
school age
26. Maternal Conditions: Teratogens
Teratogens are everything in the environment that is
ingested or breathed in that poisons the fetus.
All teratogens lead to birth defects, retardation,
and/or mental disturbances to some degree.
27. Agent Orange - a toxic poison!
Agent Orange, is an environmental
pollutant used during the Vietnam
War. It was an herbicide used to kill
the jungle vegetation.
It caused many, many birth
defects.
Triclosan (found in many
antiperspirants) is Agent Orange
28. Alcohol
Fetal Alcohol Spectrum Disorder
Abnormally small head,
underdeveloped brain, eye
abnormalities, congenital heart disease,
joint anomalies, malformations of the
face
Most serious damage from alcohol
caused in first weeks of pregnancy
This woman’s story is in National Geographic magazine.
It is the ONLY such article in NG! Search “Fetal Alcohol Syndrome”
30. Tobacco
When a pregnant woman smokes the fetus is exposed to dangerous
chemicals including nicotine, carbon monoxide and tar, which lessen the
amount of oxygen available to the fetus. Oxygen is important for overall
growth and development. Tobacco use during pregnancy has been
associated with low birth weight, ecotopic pregnancy (fertilized egg
implants itself outside of the uterus), placenta previa (placenta lies low in
the uterus and covers all or part of the cervix), placenta abruption
(placenta separates prematurely from the uterine wall), preterm delivery,
stillbirth, fetal growth restriction, sudden infant death syndrome (SIDS),
birth defects, learning disabilities, and early puberty in girls
31. Prescription/Over-the-counter Drugs:
About 70% of pregnant women take at least one prescription
drug. A woman should not be taking any prescription drug
during pregnancy unless it was prescribed by a health care
provider who knows she is pregnant. Some prescription drugs
can cause birth defects, problems in overall health, and
development of the fetus. Over-the-counter drugs are also a
concern during the prenatal period because they may cause
certain health problems. For example, the pain reliever
ibuprofen can cause serious blood flow problems to the fetus
during the last three months.
32. Illicit Drugs
Common illicit drugs include cocaine, ecstasy and other club drugs,
heroin, marijuana, and prescription drugs that are abused. It is
difficult to completely determine the effects of a particular illicit drug
on a developing child because most mothers who use, use more
than one substance and have other unhealthy behaviors.
These include smoking, drinking alcohol, not eating healthy meals,
and being more likely to get a sexually transmitted disease.
However, several problems seem clear. The use of cocaine is
connected with low birth weight, stillbirths and spontaneous
abortion. Heavy marijuana use is associated with problems in brain
development.
33. Infections
◦ Rubella (German measles): Can cause a syndrome of
congenital heart disease, cataracts, deafness, and
mental retardation in more than half of all babies born to
mothers who suffer from the disease during the first 12
weeks of pregnancy
◦ AIDS: Approximately 30% of the babies born to mothers
who test positive for the AIDS virus acquire this disease
◦ Also Rh incompatibility, radiation, pollution
34. Infections
◦ Rubella (German measles): Can cause a syndrome of
congenital heart disease, cataracts, deafness, and
mental retardation in more than half of all babies born to
mothers who suffer from the disease during the first 12
weeks of pregnancy
◦ AIDS: Approximately 30% of the babies born to mothers
who test positive for the AIDS virus acquire this disease
◦ Also Rh incompatibility, radiation, pollution
35. Newborns
• Brain development
• Born with overabundance of
neurons, but immature
(connections poorly
developed)
• After birth, neural networks
develop rapidly until puberty
when “pruning” process gains
importance
36. Brain Development
◦ Brain development during the fetal period involves neuron production, migration, and
differentiation. From the early fetal period until midgestation, most of the 85 billion
neurons have been generated and many have already migrated to their brain
positions. Neurogenesis, or the formation of neurons, is largely completed after five
months of gestation. One exception is in the hippocampus, which continues to
develop neurons throughout life.
◦ Neural migration is mostly completed in the cerebral cortex by 24 weeks. Once in
position, neurons begin to produce dendrites and axons that begin to form the neural
networks responsible for information processing. Regions of the brain that contain the
cell bodies are referred to as the gray matter because they look gray in appearance.
The axons that form the neural pathways make up the white matter because they are
covered in myelin, a fatty substance that is white in appearance.
37. Assessing Viability - how much life force in is
the child?
Physical condition: Apgar Scale: rates the strength of the heart,
respiration, muscles, reflexes and color within 5 minutes of birth
Neurological condition: Brazelton Neonatal Assessment Scale: Includes
tests of infant reflexes, motor capacities, muscle tone, capacity for
responding to objects and people, capacity to control own behavior,
attention
These tests are good for determining necessity of medical intervention
and indicate the potential for normal development.
38. Rubric for Group Reporting
Organization
Content
Mechanics/Technical Qualities
Delivery