This document discusses human genetics and inheritance patterns. It begins by explaining human sex determination, where males have XY sex chromosomes and females have XX. It then discusses several patterns of inheritance including autosomal dominant, autosomal recessive, and X-linked inheritance. Several genetic disorders are provided as examples for each type of inheritance. The document also discusses abnormalities that can occur in human chromosomes, including deletions, duplications, inversions, and translocations. It concludes by discussing modern human genetic analysis techniques like karyotyping, pedigree analysis, prenatal diagnosis, and genetic screening.
KEY CONCEPTS
13.1 Offspring acquire genes from parents by inheriting
chromosomes
13.2 Fertilization and meiosis alternate in sexual life cycles
13.3 Meiosis reduces the number of chromosome sets from diploid to haploid
13.4 Genetic variation produced in sexual life cycles contributes to evolution
Presenting on the chromosomal aberration both in structure and number. Insight view in some disorders caused by chromosomal aberration including down syndrome, Patau syndrome, Edward syndrome and XY sex chromosome.
Chromosomal aberrations are disruptions in the normal chromosomal content of a cell.
In other words, they are changes in the number and or arrangement of genes in the chromosomes.
The idea of chromosomal Linkage. It starts with understanding the Mendel's law of segregation and Independent assortment and later discusses why certain traits does not follows 9:3:3:1 ratio as in Mendel's law of Independent assortment. Also briefly covers the Genetic mapping and phenotypic mapping unit.
KEY CONCEPTS
13.1 Offspring acquire genes from parents by inheriting
chromosomes
13.2 Fertilization and meiosis alternate in sexual life cycles
13.3 Meiosis reduces the number of chromosome sets from diploid to haploid
13.4 Genetic variation produced in sexual life cycles contributes to evolution
Presenting on the chromosomal aberration both in structure and number. Insight view in some disorders caused by chromosomal aberration including down syndrome, Patau syndrome, Edward syndrome and XY sex chromosome.
Chromosomal aberrations are disruptions in the normal chromosomal content of a cell.
In other words, they are changes in the number and or arrangement of genes in the chromosomes.
The idea of chromosomal Linkage. It starts with understanding the Mendel's law of segregation and Independent assortment and later discusses why certain traits does not follows 9:3:3:1 ratio as in Mendel's law of Independent assortment. Also briefly covers the Genetic mapping and phenotypic mapping unit.
Summary of Pedigree Chart symbols.
How to use pedigree charts to analyse genetic conditions
Please note: this resource found on a fileserver on the internet. Author unknown.
When chromosomes are duplicated, each chromosome has two copies of the allele, one on each sister chromatid. However, Gregor Mendel’s “hereditary factors” were purely an abstract concept when he proposed their existence in 1860. Using improved techniques of microscopy, cytology and genetics were converged as biologists began to see parallels between the behavior of Mendel’s proposed hereditary factors during sexual life cycles and the behavior of chromosomes which later began to be developed into “the chromosome theory of inheritance”. According to this theory, Mendelian genes have specific loci (positions) along chromosomes, and it is the chromosomes that undergo segregation and independent assortment.
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وقتی کروموزومها کپی میشوند، هر کروموزوم دارای دو نسخه از یک آلل است که هر کدام بر روی هر کروماتید خواهری قرار دارد. با این حال، اصل "عوامل وراثتی" مندل، هنگامی که وی در سال 1860 وجود آنها را مطرح کرد، یک مفهوم کاملاً انتزاعی بود. با استفاده از تکنیکهای بهبود یافته میکروسکوپی، سیتولوژی و ژنتیک همگرا شدند، زیرا زیست شناسان رفتارهای موازی بین عوامل وراثتی مندل در طول چرخههای جنسی را مشاهده کردند که بعدها این رفتارهای کروموزومی به "نظریه کروموزومی وراثت " تبدیل شد. براساس این نظریه، ژنهای مندلی دارای موقعیتهای (موقعیت) خاصی در امتداد کروموزومها هستند و این کروموزومها هستند که تحت جداسازی و طبقه بندی مستقل قرار میگیرند.
Chromosomal Basis of Inheritance
Be familiar with patterns of inheritance for autosomal and sex linked genes
Understand the concept of “Linked Genes”
Understand how traits affected by incomplete dominance and codominance differ from autosomal dominant and autosomal recessive traits
Understand how nondisjunction of chromosomes can lead to disorders.
Linked genes: are those that reside on the same chromosome and tend to be inherited together
Humans have 23 pairs of chromosomes
Autosomal genes reside on the autosomal chromosomes (pairs 1-22)
Sex-linked genes are found on the sex chromosomes
(pair 23, usually on the X)
Autosomal genes are usually represented by a pair of alleles
The phenotype of the gene reflects the dominant or recessive relationship of the alleles.
Most autosomal genetic diseases are autosomal recessive meaning the individual need to be homozygous recessive to exhibit the condition
(example: cystic fibrosis) Production of abnormmaly thick mucus. Leading to the blockage of panreatic duct, intestines and respiratory infection.
Huntington’s disease is an autosomal dominant disorder meaning that is a single Huntingtons allele is inherited, the individual will have the disease.
Some alleles do not show a dominance hierarchy
Incomplete dominance: the phenotype of a heterozygous genotype is intermediate in appearance
Codominance: each allele in the genotype for a particular gene will be expressed in the phenotype
Males and females differ in their sex chromosome combination
(females XX; males XY)
Because the X contains genes and the Y “does not”, inheritance patterns of sex-linked genes vary between the sexes
recessive traits more prevalent in males
Genetic disorders can also occur due to errors in the number of inherited chromosomes
This condition arises through a problem that occurs during meiosis
Although female mammals, including humans, inherit two X chromosomes, one X chromosome in each cell becomes almost completely inactivated during embryonic development.
Barr body
Nondisjunction:
Leads to aneuploidy:
Aneuploidy: is the condition of having less than or more than the normal diploid number of chromosomes, and is the most frequently observed type of cytogenetic abnormality.
Mendelian inheritance has its physical basis in the behavior of chromosomes during sexual life cycles.
Morgan traced a gene to a specific chromosome.
Sex-linked genes have unique patterns of inheritance.
Alterations of chromosome numbers or structure cause some genetic disorders.
Linked genes tend to be inherited together because they are located on the same chromosome.
Independent assortment of chromosomes and crossing over produce genetic variation (recombinants)
Geneticists can use recombination data to map a chromosomes genetic loci.
Chromosomal basis for sex is dependent upon the organism.
2. Impacts, Issues:
Strange Genes, Tortured Minds
Exceptional creativity often accompanies
neurobiological disorders such as schizophrenia,
autism, chronic depression, and bipolar disorder
• Examples: Lincoln, Woolf, and Picasso
3. 12.1 Human Chromosomes
In humans, two sex chromosomes are the
basis of sex – human males have XY sex
chromosomes, females have XX
All other human chromosomes are autosomes
– chromosomes that are the same in males and
females
4. Sex Determination in Humans
Sex of a child is determined by the father
• Eggs have an X chromosome; sperm have X or Y
5. Sex Determination in Humans
The SRY gene on the Y chromosome is the
master gene for male sex determination
• Triggers formation of testes, which produce the
male sex hormone (testosterone)
• Without testosterone, ovaries develop and
produce female sex hormones (estrogens)
7. diploid diploid
germ cells germ cells
in female in male
meiosis, gamete
formation in both eggs sperm
female and male:
X × Y
X × X
fertilization:
X X
X XX XX
Y XY XY
sex chromosome combinations
possible in the new individual
Fig. 12-2a, p. 186
9. At seven weeks, appearance of At seven weeks, appearance
“uncommitted” duct system of of structures that will give
embryo rise to external genitalia
Y chromosome Y chromosome Y chromosome Y chromosome
present absent present absent
testes ovaries
10 weeks 10 weeks
ovary
penis vaginal opening
uterus
penis vagina
testis birth approaching
b c
Fig. 12-2bc, p. 186
11. Karyotyping
Karyotype
• A micrograph of all metaphase chromosomes in a
cell, arranged in pairs by size, shape, and length
• Detects abnormal chromosome numbers and
some structural abnormalities
Construction of a karyotype
• Colchicine stops dividing cells at metaphase
• Chromosomes are separated, stained,
photographed, and digitally rearranged
16. 12.1 Key Concepts
Autosomes and Sex Chromosomes
All animals have pairs of autosomes –
chromosomes that are identical in length, shape,
and which genes they carry
Sexually reproducing species also have a pair of
sex chromosomes; the members of this pair
differ between males and females
17. 12.2 Autosomal Inheritance Patterns
Many human traits can be traced to autosomal
dominant or recessive alleles that are inherited
in Mendelian patterns
Some of those alleles cause genetic disorders
18. Autosomal Dominant Inheritance
A dominant autosomal allele is expressed in
homozygotes and heterozygotes
• Tends to appear in every generation
• With one homozygous recessive and one
heterozygous parent, children have a 50%
chance of inheriting and displaying the trait
• Examples: achondroplasia, Huntington’s disease
19. Autosomal Recessive Inheritance
Autosomal recessive alleles are expressed only
in homozygotes; heterozygotes are carriers and
do not have the trait
• A child of two carriers has a 25% chance of
expressing the trait
• Example: galactosemia
26. Neurobiological Disorders
Most neurobiological disorders do not follow
simple patterns of Mendelian inheritance
• Depression, schizophrenia, bipolar disorders
Multiple genes and environmental factors
contribute to NBDs
27. 12.3 Too Young to be Old
Progeria
• Genetic disorder that results in accelerated aging
• Caused by spontaneous mutations in autosomes
28. 12.2-12.3 Key Concepts
Autosomal Inheritance
Many genes on autosomes are expressed in
Mendelian patterns of simple dominance
Some dominant or recessive alleles result in
genetic disorders
29. 12.4 Examples of X-Linked Inheritance
X chromosome alleles give rise to phenotypes
that reflect Mendelian patterns of inheritance
Mutated alleles on the X chromosome cause or
contribute to over 300 genetic disorders
30. X-Linked Inheritance Patterns
More males than females have X-linked
recessive genetic disorders
• Males have only one X chromosome and can
express a single recessive allele
• A female heterozygote has two X chromosomes
and may not show symptoms
Males transmit an X only to their daughters, not
to their sons
33. Some X-Linked Recessive Disorders
Hemophilia A
• Bleeding caused by lack of blood-clotting protein
Red-green color blindness
• Inability to distinguish certain colors caused by
altered photoreceptors in the eyes
Duchenne muscular dystrophy
• Degeneration of muscles caused by lack of the
structural protein dystrophin
40. 12.4 Key Concepts
Sex-Linked Inheritance
Some traits are affected by genes on the X
chromosome
Inheritance patterns of such traits differ in males
and females
41. 12.5 Heritable Changes
in Chromosome Structure
On rare occasions, a chromosome’s structure
changes; such changes are usually harmful or
lethal, rarely neutral or beneficial
A segment of a chromosome may be duplicated,
deleted, inverted, or translocated
42. Duplication
DNA sequences are repeated two or more
times; may be caused by unequal crossovers in
prophase I
52. chromosome
nonhomologous
chromosome
reciprocal translocation
p. 192
53. Does Chromosome Structure Evolve?
Changes in chromosome structure can reduce
fertility in heterozygotes; but accumulation of
multiple changes in homozygotes may result in
new species
Certain duplications may allow one copy of a
gene to mutate while the other carries out its
original function
54. Differences Among
Closely Related Organisms
Humans have 23 pairs
of chromosomes;
chimpanzees, gorillas,
and orangutans have
24
• Two chromosomes
fused end-to-end
56. Evolution of X and Y Chromosomes
from Homologous Autosomes
57. Ancestral reptiles Ancestral reptiles Monotremes Marsupials Monkeys Humans
(autosome pair) Y X Y X Y X Y X Y X
areas
that can
cross over
areas that
SRY cannot
cross over
A Before 350 B SRY gene C By 320–240 mya, the D Three more times, 170–130 mya,
mya, sex was evolves 350 mya. two chromosomes have the pair stops crossing over in
determined by Other mutations diverged so much that another region. Each time, more
temperature, not accumulate and they no longer cross changes accumulate, and the Y
by chromosome the chromosomes over in one region. The chromosome gets shorter. Today, t
differences. of the pair diverge. Y chromosome begins he pair crosses over only at a small
to degenerate. region near the ends.
Fig. 12-12, p. 193
58. 12.6 Heritable Changes in
the Chromosome Number
Occasionally, new individuals end up with the
wrong chromosome number
• Consequences range from minor to lethal
Aneuploidy
• Too many or too few copies of one chromosome
Polyploidy
• Three or more copies of each chromosome
59. Nondisjunction
Changes in chromosome number can be caused
by nondisjunction, when a pair of
chromosomes fails to separate properly during
mitosis or meiosis
Affects the chromosome number at fertilization
• Monosomy (n-1 gamete)
• Trisomy (n+1 gamete)
61. Autosomal Change and Down Syndrome
Only trisomy 21 (Down syndrome) allows
survival to adulthood
• Characteristics include physical appearance,
mental impairment, and heart defects
Incidence of nondisjunction increases with
maternal age
Can be detected through prenatal diagnosis
63. n+1
n+1
n−1
n−1
chromosome CHROMOSOME
alignments at NONDISJUNCTION alignments at NUMBER
metaphase I AT ANAPHASE I metaphase II anaphase II IN GAMETES
Fig. 12-13b, p. 194
64. n+1
n+1
n−1
n−1
chromosome CHROMOSOME
alignments at NONDISJUNCTION alignments at NUMBER
metaphase I AT ANAPHASE I metaphase II anaphase II IN GAMETES
Stepped Art
Fig. 12-13b, p. 194
68. Change in Sex Chromosome Number
Changes in sex chromosome number may
impair learning or motor skills, or be undetected
Female sex chromosome abnormalities
• Turner syndrome (XO)
• XXX syndrome (three or more X chromosomes)
Male sex chromosome abnormalities
• Klinefelter syndrome (XXY)
• XYY syndrome
69. Turner Syndrome
XO (one unpaired X
chromosome)
• Usually caused by
nondisjunction in the
father
• Results in females
with undeveloped
ovaries
70. 12.5-12.6 Key Concepts: Changes in
Chromosome Structure or Number
On rare occasions, a chromosome may undergo
a large-scale, permanent change in its structure,
or the number of autosomes or sex
chromosomes may change
In humans, such changes usually result in a
genetic disorder
71. 12.7 Human Genetic Analysis
Charting genetic connections with pedigrees
reveals inheritance patterns for certain alleles
Pedigree
• A standardized chart of genetic connections
• Used to determine the probability that future
offspring will be affected by a genetic abnormality
or disorder
72. Studying Inheritance in Humans
Genetic studies can
reveal inheritance
patterns or clues to
past events
• Example: A link
between a Y
chromosome and
Genghis Khan?
73. Defining Genetic Disorders
and Abnormalities
Genetic abnormality
• A rare or uncommon version of a trait; not
inherently life threatening
Genetic disorder
• An inherited condition that causes mild to severe
medical problems, characterized by a specific set
of symptoms (a syndrome)
76. Recurring Genetic Disorders
Mutations that cause genetic disorders are rare
and put their bearers at risk
Such mutations survive in populations for
several reasons
• Reintroduction by new mutations
• Recessive alleles are masked in heterozygotes
• Heterozygotes may have an advantage in a
specific environment
77. A Pedigree for Huntington’s Disease
A progressive degeneration of the nervous
system caused by an autosomal dominant allele
80. 12.8 Prospects in Human Genetics
Genetic analysis can provide parents with
information about their future children
Genetic counseling
• Starts with parental genotypes, pedigrees, and
genetic testing for known disorders
• Information is used to predict the probability of
having a child with a genetic disorder
81. Prenatal Diagnosis
Tests done on an embryo or fetus before birth to
screen for sex or genetic problems
• Involves risks to mother and fetus
Three types of prenatal diagnosis
• Amniocentesis
• Chorionic villus sampling (CVS)
• Fetoscopy
85. Preimplantation Diagnosis
Used in in-vitro fertilization
• An undifferentiated cell is removed from the early
embryo and examined before implantation
86. After Preimplantation Diagnosis
When a severe problem is diagnosed, some
parents choose an induced abortion
In some cases, surgery, prescription drugs,
hormone replacement therapy, or dietary
controls can minimize or eliminate symptoms of
a genetic disorder
• Example: PKU can be managed with dietary
restrictions
87. Genetic Screening
Genetic screening (widespread, routine testing
for alleles associated with genetic disorders)
• Provides information on reproductive risks
• Identifies family members with a genetic disorder
• Used to screen newborns for certain disorders
• Used to estimate the prevalence of harmful
alleles in a population
88. 12.7-12.8 Key Concepts
Human Genetic Analysis
Various analytical and diagnostic procedures
often reveal genetic disorders
What an individual, and society at large, should
do with the information raises ethical questions
Figure 12.2 ( a ) Punnett-square diagram showing the sex determination pattern in humans. ( b ) An early human embryo appears neither male nor female. Then tiny ducts and other structures that can develop into male or female reproductive organs start forming. In an XX embryo, ovaries form in the absence of the Y chromosome and its SRY gene. In an XY embryo, the gene product triggers formation of testes, which secrete a hormone that initiates development of other male traits. ( c ) External reproductive organs in human embryos.
Figure 12.2 ( a ) Punnett-square diagram showing the sex determination pattern in humans. ( b ) An early human embryo appears neither male nor female. Then tiny ducts and other structures that can develop into male or female reproductive organs start forming. In an XX embryo, ovaries form in the absence of the Y chromosome and its SRY gene. In an XY embryo, the gene product triggers formation of testes, which secrete a hormone that initiates development of other male traits. ( c ) External reproductive organs in human embryos.
Figure 12.2 ( a ) Punnett-square diagram showing the sex determination pattern in humans. ( b ) An early human embryo appears neither male nor female. Then tiny ducts and other structures that can develop into male or female reproductive organs start forming. In an XX embryo, ovaries form in the absence of the Y chromosome and its SRY gene. In an XY embryo, the gene product triggers formation of testes, which secrete a hormone that initiates development of other male traits. ( c ) External reproductive organs in human embryos.
Figure 12.3 Karyotyping, a diagnostic tool that reveals an image of a single cell’s diploid complement of chromosomes. This human karyotype shows 22 pairs of autosomes and a pair of X chromosomes. Figure It Out: Was this cell taken from a male or female? Answer: Female
Figure 12.3 Karyotyping, a diagnostic tool that reveals an image of a single cell’s diploid complement of chromosomes. This human karyotype shows 22 pairs of autosomes and a pair of X chromosomes. Figure It Out: Was this cell taken from a male or female? Answer: Female
Figure 12.4 ( a ) Example of autosomal dominant inheritance. A dominant allele ( red ) is fully expressed in heterozygotes. Achondroplasia, an autosomal dominant disorder, affects the three men shown above. At center, Verne Troyer (Mini Me in the Mike Myers spy movies), stands two feet, eight inches tall. ( b ) An autosomal recessive pattern. In this example, both parents are heterozygous carriers of the recessive allele ( red ).
Figure 12.4 ( a ) Example of autosomal dominant inheritance. A dominant allele ( red ) is fully expressed in heterozygotes. Achondroplasia, an autosomal dominant disorder, affects the three men shown above. At center, Verne Troyer (Mini Me in the Mike Myers spy movies), stands two feet, eight inches tall. ( b ) An autosomal recessive pattern. In this example, both parents are heterozygous carriers of the recessive allele ( red ).
Figure 12.9 Left, what red–green color blindness means, using ripe red cherries on a green-leafed tree as an example. In this case, the perception of blues and yellows is normal, but the affected individual has difficulty distinguishing red from green. Right , two of many Ishihara plates, which are standardized tests for different forms of color blindness. ( a ) You may have one form of red–green color blindness if you see the numeral 7 instead of 29 in this circle. ( b ) You may have another form if you see a 3 instead of an 8.
Figure 12.9 Left, what red–green color blindness means, using ripe red cherries on a green-leafed tree as an example. In this case, the perception of blues and yellows is normal, but the affected individual has difficulty distinguishing red from green. Right , two of many Ishihara plates, which are standardized tests for different forms of color blindness. ( a ) You may have one form of red–green color blindness if you see the numeral 7 instead of 29 in this circle. ( b ) You may have another form if you see a 3 instead of an 8.
Figure 12.9 Left, what red–green color blindness means, using ripe red cherries on a green-leafed tree as an example. In this case, the perception of blues and yellows is normal, but the affected individual has difficulty distinguishing red from green. Right , two of many Ishihara plates, which are standardized tests for different forms of color blindness. ( a ) You may have one form of red–green color blindness if you see the numeral 7 instead of 29 in this circle. ( b ) You may have another form if you see a 3 instead of an 8.
Figure 12.9 Left, what red–green color blindness means, using ripe red cherries on a green-leafed tree as an example. In this case, the perception of blues and yellows is normal, but the affected individual has difficulty distinguishing red from green. Right , two of many Ishihara plates, which are standardized tests for different forms of color blindness. ( a ) You may have one form of red–green color blindness if you see the numeral 7 instead of 29 in this circle. ( b ) You may have another form if you see a 3 instead of an 8.
Figure 12.10 Cri-du - chat syndrome. ( a ) This infant’s ears are low relative to his eyes. ( b ) Same boy, four years later. The high-pitched monotone of cri-du-chat children may persist into their adulthood.
Figure 12.10 Cri-du - chat syndrome. ( a ) This infant’s ears are low relative to his eyes. ( b ) Same boy, four years later. The high-pitched monotone of cri-du-chat children may persist into their adulthood.
Figure 12.11 Banding patterns of human chromosome 2 ( a ), compared with two chimpanzee chromosomes ( b ). Bands appear because different regions of the chromosomes take up stain differently.
Figure 12.12 Evolution of the Y chromosome. Mya stands for million years ago.
Figure 12.13 ( a ) A case of nondisjunction. This karyotype reveals the trisomic 21 condition of a human female. ( b ) One example of how nondisjunction arises. Of the two pairs of homologous chromosomes shown here, one fails to separate during anaphase I of meiosis. The chromosome number is altered in the gametes that form after meiosis.
Figure 12.13 ( a ) A case of nondisjunction. This karyotype reveals the trisomic 21 condition of a human female. ( b ) One example of how nondisjunction arises. Of the two pairs of homologous chromosomes shown here, one fails to separate during anaphase I of meiosis. The chromosome number is altered in the gametes that form after meiosis.
Figure 12.14 Relationship between the frequency of Down syndrome and mother’s age at childbirth. The data are from a study of 1,119 affected children. The risk of having a trisomic 21 baby rises with the mother’s age. About 80 percent of trisomic 21 individuals are born to women under thirty-five, but these women have the highest fertility rates, and they have more babies.
Figure 12.14 Relationship between the frequency of Down syndrome and mother’s age at childbirth. The data are from a study of 1,119 affected children. The risk of having a trisomic 21 baby rises with the mother’s age. About 80 percent of trisomic 21 individuals are born to women under thirty-five, but these women have the highest fertility rates, and they have more babies.