SlideShare a Scribd company logo
1 of 45
Genetics
• The study of heredity .
• Gregor Mendel- Austrian Monk -Father
of modern genetics
• Studied inheritance of characteristics
in green pea.
Heredity
• The transmission of inherited
characters from one generation to
another.
• Each characteristic is called a trait.
Gene
Are unit of heredity.
factor that control traits.
composed of DNA
Allele: a pair of genes located at the same
place on a homologous chromosome
• Dominant genes: those that mask the
presence of other corresponding genes
• Recessive genes: those whose physical
expression (phenotype) is masked in the
presence of a dominant gene.
•
•
•
•
• Phenotype: the physical appearance of a
plant or animal because of its genetic
makeup (genotype)
• Genotype: genetic constitution (makeup)
of an individual
• Phenotype could be –Brown eyes .
• Genotype would be BB.
Types of genotype
• Heterozygous- when a plant or animal
has two genes for different traits
(example: tall and short)
• Homozygous- when a plant or animal has
two genes for the same trait (example:
two tall genes, or two short genes
Chromosomes
• A chromosome is an organized structure
of DNA and protein found in cells.
• Contains 50% proteins and 50% DNA (deoxyribonucleic acid).
• Made of many chromatin threads
• Somatic cells contain 46 chromosomes, gametic
cells contain 23 chromosomes.
• 44 of our chromosomes are AUTOSOMES,
while 2 are called sex chromosomes.
• Each chromosome contains many GENES that
act as a blueprint or set of instructions for the
cell.
DNA
• The DNA in chromosomes forms the basis for the
genetic code
• DNA is made of long chains of nucleotides.
• DNA has a DOUBLE-HELIX structure where 2
strands of nucleotides join and twist around to form a
spiral staircase or twisted ladder.
• Each nucleotide has 3 parts:
• 1. a phosphate group - helps form the backbone of
the DNA molecule
• 2. a sugar (deoxyribose) - acts as a glue,forms the
backbone with phosphate
• 3. nitrogen bases - 4 types (guanine, cytosine,
adenine, thymine)
DNA FUNCTION
• Control of cell activities
• Replication
• Undergo mutations
Mitosis
• The process of equal partitioning of
replicating chromosomes into identical
groups.
• Stages : interphase, prophase,
metaphase, anaphase, telophase and
cytokinesis.
Meiosis –reduction division
• Takes place in gamete or sex cells.
• There is double division maintaining the
DNA but reducing the chromosomal
count to 23.
• Meiosis I and Meiosis II
MENDELIAN LAWS
 Law of Dominance
 Law of Segregation 
  Law of Independent Assortment
LAW OF DOMINANCE
• Mendel’s first law of inheritance
• If two alleles are different i.e.
heterozygous ,the trait associated with
only one of these will be visible
(dominant) while the other will be
hidden(recessive)
LAW OF SEGREGATION
 The separation of allele into separate gametes
is law of segregation.
 It states that every individual possesses a pair
of alleles (assuming diploidy) for any particular
trait and that each parent passes a randomly
selected copy (allele) of only one of these to
its offspring.
LAW OF ASSORTMENT
 Also known as "Inheritance Law”
 It states that separate genes for
separate traits are passed independently
of one another from parents to offspring
Genetic disease
• Is an abnormal condition that a person
inherits through genes or chromosomes.
• Caused by mutations.
Genetic disease
MULTIFACTORIAL DISORDERS
• Also known as Complex disorders.
• Associated with the effects of multiple
genes in combination with lifestyles and
environmental factors.
• eg.
 Asthma
 Cancers
 Cleft palate
 Diabetes
 Heart disease
 Hypertension
MENDELIAN DISEASES
Mendelian diseases are inherited according
to the Mendelian Laws.
 Dominant
 Recessive
 Sex linked diseases
AUTOSOMAL DOMINANT
Individual with an autosomal dominant trait
will produce two kinds of gametes with
respect to the mutant gene.
Half with the mutant gene and half with
the normal allele.
Offspring of such individual has a 50:50
chances of being affected, provided the
other parent is normal.
DOMINANT DISEASES
 Polycystic kidney
 Neurofibromatosis
 Retinoblastoma
 Marfan syndrome
AUTOSOMAL RECESSIVE

• Abnormalities occur when both the
parents are heterozygous.
• Offspring of such parents has a chance of
1:4 being affected.

RECESSIVE DISEASES
 Cystic fibrosis
 Sickle cell anemia
 Galactosemia
 Phenylketonuria
SEX LINKED
• A mutant gene on X chromosome in males
will express itself readily as there is no
normal allele
• A mutant gene on X chromosome in
females will not express itself in the
presence of normal allele.

SEX LINKED DISEASES
 Hemophilia
 Color Blindness
 G6PD Deficiency
Chromosomal abnormalities
• Incorrect number of chromosomes.
 nondisjunction : chromosomes do not
separate properly. Eg trisomy monosomy
Breakage of chromosomes:
 Deletion
 Duplication
 Inversion
 Translocation
Examples of chromosomal
disorder
•
•
•
•
•

Down syndrome: trisomy 21
XXY :klinefelter syndrome male
XXX :trisomy female
XYY: Jacobs syndrome male
XO: Turner syndrome.
GENETIC PREDISPOSITION
•
•
•

•

Also known as genetic susceptibility, genetic risk
Genetic predisposition is an inherited risk of developing a
disease or condition.
Having a genetic predisposition for a disease does not mean
that you will get that disease, but your risk may be higher than
that of the general population.
Genetic testing is able to identify individuals who are genetically
predisposed to certain health problems
Preventive and Social measures
•

(a) Eugenics
Galton proposed the term eugenics
for the science, which aims to
improve the genetic endowment of
human population. Eugenics has
both negative and positive aspects.
Negative eugenics
The aim of negative eugenics is to
reduce the frequency of hereditary
disease and disability in the
community to the least possible
degree.
Positive eugenics
It seeks to improve the genetic
composition of the population by
encouraging the carriers of desirable
genotypes to assume the burden of
parenthood.
• (b) Euthenics
Studies with mentally retarded (mild)
children indicated that exposure to
environmental stimulation improved their
IQ. Thus the solution of improving the
human race does not lie in contrasting
heredity and environment, but rather in
mutual interaction of heredity and
environmental factors. This environmental
manipulation is called euthenics and has
considerable broader prospects for success
• (c) Genetic Counseling
The most immediate and practical service
that genetics can render in medicine and
surgery is genetic counseling.
]
Genetic Counseling may be
Prospective
Retrospective
• Most genetic counseling is at present
retrospective i.e. the hereditary disorder has
already occurred with in the family
• The WHO recommends the establishment of
genetic counseling centres in sufficient
numbers in regions where infections disease
and nutritional disorders have been brought
under control and in areas where genetic
disorders have always constituted a serious
public health problem (i.e. sickle cell anaemia
and thalassemia)
• The methods which could be suggested under
retrospective genetic counseling are:
• Contraception
• Pregnancy termination
Sterilization depending upon the attitudes and
cultural environment
• Other genetic measures
Consanguineous marriages: When
blood relatives marry each other there
is an increased risk in the offspring of
traits controlled by recessive genes, and
those determined by polygenes.
Examples are : Albinism, Alkaptonuria,
Phenylketonuria and several others
Prenatal Diagnosis:
Amniocentesis in early pregnancy
(about 14-16 weeks) has now made it
possible for prenatal diagnosis of
conditions associated with
chromosomal anomalies. EXAMPLE
Down’ s syndrome
Indications for pre-natal diagnosis
Indications

Methods

Advance maternal age
,previous child with
chromosome aberration,
intrauterine growth delay

Cytogenetics
(amniocentesis , chorionic
villus sampling)

Biochemical Disorders

Protein essay, DNA
diagnosis

Congenital Anomaly

Sonography, foetoscopy

Screening for neural tube
defects and trisomy

Maternal serum alphafoetoprotein and chorionic
gonadotropin
Prevention Of Genetic Diseases: How
Genetic Testing Can Save Child's Life
• Genetic tests performed on newborns and
children can help parents prepare their
child for the possibility of developing a
hereditary disease. DNA tests can tell
parents many things about a child's genetic
makeup, including whether or not they
currently have a genetic disorder or
whether they are at risk for developing an
inherited disease later in life.
• Genetic testing often begins in the
womb. Doctors can administer prenatal
DNA tests to detect certain genetic
disorders, such as Down syndrome, as
well as numerous fatal birth defects.
• A technician uses a needle to
lightly prick your baby 's heel
and draw blood. This kind of
early attention to genetic
information can literally save
a child's life, as disease
prevention or treatment can
often begin immediately.
Newborn Screening
• Preventing genetic disorders once the child has been
born can be helped through newborn screening. This
typically involves taking a sample of blood from the
baby's heel.
• Genetic testing is done in all hospitals to test for a
variety of metabolic disorders before symptoms
arise. These disorders can potentially lead to severe
mental retardation and even death.
• If a genetic disorder is detected, metabolic or
otherwise, treatment can begin immediately to
prevent complications and to ensure that your child
has the best possible chances for living a normal,
healthy life.
• A more thorough list of conditions looked for with
genetic testing and their possible preventative
measures can be found on the KidsHealth.org article
on newborn screening tests
• Recognizing Pre-clinical areas
Screening tests are available for the
early diagnosis.
Example- Heterozygotes for
phenylketonuria can be detected by a
phenylalanine tolerance test
Detection of Genetic carriers
Especially the inborn errors of
metabolism
The female carriers of Duchenne type
of muscular dystrophy, an X- linked
disorder can now be detected by
elevated levels of serum creatine
kinase in 80 percent of carriers.
• Specific protection
Increasing attention is now being paid to the
protection of individuals and whole
communities against mutagens such as X-rays
and other ionizing radiations and also
chemical mutagens.
•
•
•
•
•

Need of individualized and
specific education about how
to:
Check regularly for the disease.
Follow a healthy diet.
Get regular exercise.
Avoid smoking tobacco and too
much alcohol.
Get specific genetic testing that
can help with diagnosis and
treatment.
Conclusion
• Disease prevention is an integral part of
parenthood, and prevention of genetic
disorders can help us take this one step
further to ensure that the child lives the
healthiest life possible.
ARSHPREET KAUR
SONAL
GURPREET KAUR

More Related Content

What's hot (20)

Sex Linked Inheritance
Sex Linked InheritanceSex Linked Inheritance
Sex Linked Inheritance
 
human genetics and population genetics
human genetics and population geneticshuman genetics and population genetics
human genetics and population genetics
 
Angelman syndrome
Angelman syndromeAngelman syndrome
Angelman syndrome
 
Autosomal recessive inheritance
Autosomal recessive inheritanceAutosomal recessive inheritance
Autosomal recessive inheritance
 
Genetic condition
Genetic conditionGenetic condition
Genetic condition
 
Progeria
ProgeriaProgeria
Progeria
 
Explanation of X-Linked inheritance
Explanation of X-Linked inheritanceExplanation of X-Linked inheritance
Explanation of X-Linked inheritance
 
Genetic counselling
Genetic counsellingGenetic counselling
Genetic counselling
 
Genetic counselling
Genetic counsellingGenetic counselling
Genetic counselling
 
PEDIGREE ANALYSIS.pdf
PEDIGREE ANALYSIS.pdfPEDIGREE ANALYSIS.pdf
PEDIGREE ANALYSIS.pdf
 
X-linked disease
X-linked diseaseX-linked disease
X-linked disease
 
Mechanism of inheritance (mendelian theory)
Mechanism of inheritance (mendelian theory)Mechanism of inheritance (mendelian theory)
Mechanism of inheritance (mendelian theory)
 
genetic disorder
genetic disordergenetic disorder
genetic disorder
 
Genetic disorders
Genetic disordersGenetic disorders
Genetic disorders
 
Pedigree examples
Pedigree examplesPedigree examples
Pedigree examples
 
Genetic disorders 3
Genetic disorders 3Genetic disorders 3
Genetic disorders 3
 
Genetic counseling
Genetic counselingGenetic counseling
Genetic counseling
 
Genetic & ;Development Disorders Down's syndrome.
Genetic & ;Development Disorders Down's syndrome.Genetic & ;Development Disorders Down's syndrome.
Genetic & ;Development Disorders Down's syndrome.
 
Genetic heterogeneity |Genetics|Animal Genetics|Plant Genetics|
Genetic heterogeneity |Genetics|Animal Genetics|Plant Genetics|Genetic heterogeneity |Genetics|Animal Genetics|Plant Genetics|
Genetic heterogeneity |Genetics|Animal Genetics|Plant Genetics|
 
GENETIC DISORDERS
GENETIC DISORDERSGENETIC DISORDERS
GENETIC DISORDERS
 

Viewers also liked

DNA finger printing
DNA finger printing DNA finger printing
DNA finger printing Ivan Kato
 
1. modern genetics (2010)
1. modern genetics (2010)1. modern genetics (2010)
1. modern genetics (2010)Bob Smullen
 
Pinkey gupta (fishery firm)
Pinkey gupta (fishery firm)Pinkey gupta (fishery firm)
Pinkey gupta (fishery firm)PINKEY GUPTA
 
Dna chips, RFLPs & dna fingerprint
Dna chips, RFLPs & dna fingerprintDna chips, RFLPs & dna fingerprint
Dna chips, RFLPs & dna fingerprintTapeshwar Yadav
 
Modeling of Competitive Kinetics of DNA Hybridization Reactions
Modeling of Competitive Kinetics of DNA Hybridization ReactionsModeling of Competitive Kinetics of DNA Hybridization Reactions
Modeling of Competitive Kinetics of DNA Hybridization Reactionsgantovnik
 
MEGA (Molecular Evolutionary Genetics Analysis)
MEGA (Molecular Evolutionary Genetics Analysis)MEGA (Molecular Evolutionary Genetics Analysis)
MEGA (Molecular Evolutionary Genetics Analysis)Athar Mutahari
 
Forensic Sciences (DNA Fingerprinting) STR Typing - Case Report
Forensic Sciences (DNA Fingerprinting) STR Typing - Case ReportForensic Sciences (DNA Fingerprinting) STR Typing - Case Report
Forensic Sciences (DNA Fingerprinting) STR Typing - Case Reportnarmeenarshad
 
Chapter 2 Lesson 2 Vertebrates
Chapter 2 Lesson 2 VertebratesChapter 2 Lesson 2 Vertebrates
Chapter 2 Lesson 2 Vertebratesjulie albert
 
DNA Fingerprinting
DNA FingerprintingDNA Fingerprinting
DNA Fingerprintingbiomedicz
 
Histology of stomach
Histology of stomachHistology of stomach
Histology of stomachTehseen Anwar
 
Histology of liver by aravindh dpi
Histology of liver by aravindh dpiHistology of liver by aravindh dpi
Histology of liver by aravindh dpiAravindh Dpi
 

Viewers also liked (20)

FYBSc Course-I Semester-I MCQ : Levels of organization sudeshrathod
FYBSc Course-I Semester-I MCQ : Levels of organization sudeshrathodFYBSc Course-I Semester-I MCQ : Levels of organization sudeshrathod
FYBSc Course-I Semester-I MCQ : Levels of organization sudeshrathod
 
DNA finger printing
DNA finger printing DNA finger printing
DNA finger printing
 
1. modern genetics (2010)
1. modern genetics (2010)1. modern genetics (2010)
1. modern genetics (2010)
 
Pinkey gupta (fishery firm)
Pinkey gupta (fishery firm)Pinkey gupta (fishery firm)
Pinkey gupta (fishery firm)
 
Ch14 notes website
Ch14 notes websiteCh14 notes website
Ch14 notes website
 
Chromosomes
ChromosomesChromosomes
Chromosomes
 
Dna chips, RFLPs & dna fingerprint
Dna chips, RFLPs & dna fingerprintDna chips, RFLPs & dna fingerprint
Dna chips, RFLPs & dna fingerprint
 
Modeling of Competitive Kinetics of DNA Hybridization Reactions
Modeling of Competitive Kinetics of DNA Hybridization ReactionsModeling of Competitive Kinetics of DNA Hybridization Reactions
Modeling of Competitive Kinetics of DNA Hybridization Reactions
 
MEGA (Molecular Evolutionary Genetics Analysis)
MEGA (Molecular Evolutionary Genetics Analysis)MEGA (Molecular Evolutionary Genetics Analysis)
MEGA (Molecular Evolutionary Genetics Analysis)
 
Molluscan
MolluscanMolluscan
Molluscan
 
Forensic Sciences (DNA Fingerprinting) STR Typing - Case Report
Forensic Sciences (DNA Fingerprinting) STR Typing - Case ReportForensic Sciences (DNA Fingerprinting) STR Typing - Case Report
Forensic Sciences (DNA Fingerprinting) STR Typing - Case Report
 
Gut 2
Gut 2Gut 2
Gut 2
 
Marine Commercial Fin- fish and Shell-finsh Fisheries of India
Marine Commercial Fin- fish and Shell-finsh Fisheries of IndiaMarine Commercial Fin- fish and Shell-finsh Fisheries of India
Marine Commercial Fin- fish and Shell-finsh Fisheries of India
 
Chapter 2 Lesson 2 Vertebrates
Chapter 2 Lesson 2 VertebratesChapter 2 Lesson 2 Vertebrates
Chapter 2 Lesson 2 Vertebrates
 
DNA Fingerprinting
DNA FingerprintingDNA Fingerprinting
DNA Fingerprinting
 
Gene manipulation
Gene manipulationGene manipulation
Gene manipulation
 
Genome origin
Genome originGenome origin
Genome origin
 
Histology of stomach
Histology of stomachHistology of stomach
Histology of stomach
 
Histology of liver by aravindh dpi
Histology of liver by aravindh dpiHistology of liver by aravindh dpi
Histology of liver by aravindh dpi
 
Spermatogenesis
SpermatogenesisSpermatogenesis
Spermatogenesis
 

Similar to Genetics

Psyc 221 biological foundation prenatal.pptx
Psyc 221 biological foundation  prenatal.pptxPsyc 221 biological foundation  prenatal.pptx
Psyc 221 biological foundation prenatal.pptxyesasko
 
Genetic Disorders.ppt
Genetic Disorders.pptGenetic Disorders.ppt
Genetic Disorders.pptSmriti Arora
 
introduction to genetics in Nursing and its Importance
introduction to genetics  in Nursing and its Importanceintroduction to genetics  in Nursing and its Importance
introduction to genetics in Nursing and its Importancevirengeeta
 
Genetics and health
Genetics and healthGenetics and health
Genetics and healthalka mishra
 
GENETICS INTRODUCTION NURSING
GENETICS INTRODUCTION NURSINGGENETICS INTRODUCTION NURSING
GENETICS INTRODUCTION NURSINGFootballLover16
 
Genetics _ Health 1.pptx
Genetics _ Health 1.pptxGenetics _ Health 1.pptx
Genetics _ Health 1.pptxJudithDavis26
 
Dev psych.ch2.outline
Dev psych.ch2.outlineDev psych.ch2.outline
Dev psych.ch2.outlinejhoegh
 
BTG 708 GENE THERAPY.pptx
BTG 708 GENE THERAPY.pptxBTG 708 GENE THERAPY.pptx
BTG 708 GENE THERAPY.pptxRUTH AFUNWA
 
General overview of patterns of transmission of single gene traits
General overview of patterns of transmission of single gene traitsGeneral overview of patterns of transmission of single gene traits
General overview of patterns of transmission of single gene traitsPaul Adepoju
 
PPZ301 LESSON 1.4
PPZ301 LESSON 1.4PPZ301 LESSON 1.4
PPZ301 LESSON 1.4ewrobel
 
Bases of human genetic. Method of studying of human heredity
Bases of human genetic. Method of studying of human heredityBases of human genetic. Method of studying of human heredity
Bases of human genetic. Method of studying of human heredityEneutron
 
Genes and chromosomes.pptx
Genes and chromosomes.pptxGenes and chromosomes.pptx
Genes and chromosomes.pptxRuvimboMarikano
 
Genetics notes
Genetics notesGenetics notes
Genetics notesn/a
 
Introduction to genetics.pptx
Introduction to genetics.pptxIntroduction to genetics.pptx
Introduction to genetics.pptxsachinshitole12
 

Similar to Genetics (20)

Psyc 221 biological foundation prenatal.pptx
Psyc 221 biological foundation  prenatal.pptxPsyc 221 biological foundation  prenatal.pptx
Psyc 221 biological foundation prenatal.pptx
 
Genetic Disorders.ppt
Genetic Disorders.pptGenetic Disorders.ppt
Genetic Disorders.ppt
 
introduction to genetics in Nursing and its Importance
introduction to genetics  in Nursing and its Importanceintroduction to genetics  in Nursing and its Importance
introduction to genetics in Nursing and its Importance
 
Genetics and health
Genetics and healthGenetics and health
Genetics and health
 
Ch02
Ch02Ch02
Ch02
 
GENETICS INTRODUCTION NURSING
GENETICS INTRODUCTION NURSINGGENETICS INTRODUCTION NURSING
GENETICS INTRODUCTION NURSING
 
Genetics _ Health 1.pptx
Genetics _ Health 1.pptxGenetics _ Health 1.pptx
Genetics _ Health 1.pptx
 
Dev psych.ch2.outline
Dev psych.ch2.outlineDev psych.ch2.outline
Dev psych.ch2.outline
 
BTG 708 GENE THERAPY.pptx
BTG 708 GENE THERAPY.pptxBTG 708 GENE THERAPY.pptx
BTG 708 GENE THERAPY.pptx
 
General overview of patterns of transmission of single gene traits
General overview of patterns of transmission of single gene traitsGeneral overview of patterns of transmission of single gene traits
General overview of patterns of transmission of single gene traits
 
PPZ301 LESSON 1.4
PPZ301 LESSON 1.4PPZ301 LESSON 1.4
PPZ301 LESSON 1.4
 
Bases of human genetic. Method of studying of human heredity
Bases of human genetic. Method of studying of human heredityBases of human genetic. Method of studying of human heredity
Bases of human genetic. Method of studying of human heredity
 
Family history
Family history Family history
Family history
 
Life2
Life2Life2
Life2
 
Life2
Life2Life2
Life2
 
Genes and chromosomes.pptx
Genes and chromosomes.pptxGenes and chromosomes.pptx
Genes and chromosomes.pptx
 
genetic disorder and cancer.pptx
genetic disorder and cancer.pptxgenetic disorder and cancer.pptx
genetic disorder and cancer.pptx
 
Genetics notes
Genetics notesGenetics notes
Genetics notes
 
Introduction to genetics.pptx
Introduction to genetics.pptxIntroduction to genetics.pptx
Introduction to genetics.pptx
 
Concept and basics of genetics
Concept and basics of geneticsConcept and basics of genetics
Concept and basics of genetics
 

More from Dr. Sonal Mandhotra

More from Dr. Sonal Mandhotra (6)

Strategic Management
Strategic ManagementStrategic Management
Strategic Management
 
Alternative and complimentary med.
Alternative and complimentary med.Alternative and complimentary med.
Alternative and complimentary med.
 
Material Management and ABC analysis
Material Management and ABC analysisMaterial Management and ABC analysis
Material Management and ABC analysis
 
Child health
Child healthChild health
Child health
 
Telemedine services
Telemedine servicesTelemedine services
Telemedine services
 
Motivation
MotivationMotivation
Motivation
 

Recently uploaded

Influencing policy (training slides from Fast Track Impact)
Influencing policy (training slides from Fast Track Impact)Influencing policy (training slides from Fast Track Impact)
Influencing policy (training slides from Fast Track Impact)Mark Reed
 
Grade 9 Quarter 4 Dll Grade 9 Quarter 4 DLL.pdf
Grade 9 Quarter 4 Dll Grade 9 Quarter 4 DLL.pdfGrade 9 Quarter 4 Dll Grade 9 Quarter 4 DLL.pdf
Grade 9 Quarter 4 Dll Grade 9 Quarter 4 DLL.pdfJemuel Francisco
 
INTRODUCTION TO CATHOLIC CHRISTOLOGY.pptx
INTRODUCTION TO CATHOLIC CHRISTOLOGY.pptxINTRODUCTION TO CATHOLIC CHRISTOLOGY.pptx
INTRODUCTION TO CATHOLIC CHRISTOLOGY.pptxHumphrey A Beña
 
4.16.24 Poverty and Precarity--Desmond.pptx
4.16.24 Poverty and Precarity--Desmond.pptx4.16.24 Poverty and Precarity--Desmond.pptx
4.16.24 Poverty and Precarity--Desmond.pptxmary850239
 
Active Learning Strategies (in short ALS).pdf
Active Learning Strategies (in short ALS).pdfActive Learning Strategies (in short ALS).pdf
Active Learning Strategies (in short ALS).pdfPatidar M
 
AUDIENCE THEORY -CULTIVATION THEORY - GERBNER.pptx
AUDIENCE THEORY -CULTIVATION THEORY -  GERBNER.pptxAUDIENCE THEORY -CULTIVATION THEORY -  GERBNER.pptx
AUDIENCE THEORY -CULTIVATION THEORY - GERBNER.pptxiammrhaywood
 
ClimART Action | eTwinning Project
ClimART Action    |    eTwinning ProjectClimART Action    |    eTwinning Project
ClimART Action | eTwinning Projectjordimapav
 
Choosing the Right CBSE School A Comprehensive Guide for Parents
Choosing the Right CBSE School A Comprehensive Guide for ParentsChoosing the Right CBSE School A Comprehensive Guide for Parents
Choosing the Right CBSE School A Comprehensive Guide for Parentsnavabharathschool99
 
Narcotic and Non Narcotic Analgesic..pdf
Narcotic and Non Narcotic Analgesic..pdfNarcotic and Non Narcotic Analgesic..pdf
Narcotic and Non Narcotic Analgesic..pdfPrerana Jadhav
 
Student Profile Sample - We help schools to connect the data they have, with ...
Student Profile Sample - We help schools to connect the data they have, with ...Student Profile Sample - We help schools to connect the data they have, with ...
Student Profile Sample - We help schools to connect the data they have, with ...Seán Kennedy
 
The State of AI in Insights and Research 2024: Results and Findings
The State of AI in Insights and Research 2024: Results and FindingsThe State of AI in Insights and Research 2024: Results and Findings
The State of AI in Insights and Research 2024: Results and FindingsRay Poynter
 
Multi Domain Alias In the Odoo 17 ERP Module
Multi Domain Alias In the Odoo 17 ERP ModuleMulti Domain Alias In the Odoo 17 ERP Module
Multi Domain Alias In the Odoo 17 ERP ModuleCeline George
 
How to Manage Engineering to Order in Odoo 17
How to Manage Engineering to Order in Odoo 17How to Manage Engineering to Order in Odoo 17
How to Manage Engineering to Order in Odoo 17Celine George
 
Measures of Position DECILES for ungrouped data
Measures of Position DECILES for ungrouped dataMeasures of Position DECILES for ungrouped data
Measures of Position DECILES for ungrouped dataBabyAnnMotar
 
Incoming and Outgoing Shipments in 3 STEPS Using Odoo 17
Incoming and Outgoing Shipments in 3 STEPS Using Odoo 17Incoming and Outgoing Shipments in 3 STEPS Using Odoo 17
Incoming and Outgoing Shipments in 3 STEPS Using Odoo 17Celine George
 
Inclusivity Essentials_ Creating Accessible Websites for Nonprofits .pdf
Inclusivity Essentials_ Creating Accessible Websites for Nonprofits .pdfInclusivity Essentials_ Creating Accessible Websites for Nonprofits .pdf
Inclusivity Essentials_ Creating Accessible Websites for Nonprofits .pdfTechSoup
 
4.18.24 Movement Legacies, Reflection, and Review.pptx
4.18.24 Movement Legacies, Reflection, and Review.pptx4.18.24 Movement Legacies, Reflection, and Review.pptx
4.18.24 Movement Legacies, Reflection, and Review.pptxmary850239
 
Concurrency Control in Database Management system
Concurrency Control in Database Management systemConcurrency Control in Database Management system
Concurrency Control in Database Management systemChristalin Nelson
 
PRINCIPLE & APPLICATIONS OF IMMUNO BLOTTING TECHNIQUES.pptx
PRINCIPLE & APPLICATIONS OF IMMUNO BLOTTING TECHNIQUES.pptxPRINCIPLE & APPLICATIONS OF IMMUNO BLOTTING TECHNIQUES.pptx
PRINCIPLE & APPLICATIONS OF IMMUNO BLOTTING TECHNIQUES.pptxAnupkumar Sharma
 

Recently uploaded (20)

Influencing policy (training slides from Fast Track Impact)
Influencing policy (training slides from Fast Track Impact)Influencing policy (training slides from Fast Track Impact)
Influencing policy (training slides from Fast Track Impact)
 
Grade 9 Quarter 4 Dll Grade 9 Quarter 4 DLL.pdf
Grade 9 Quarter 4 Dll Grade 9 Quarter 4 DLL.pdfGrade 9 Quarter 4 Dll Grade 9 Quarter 4 DLL.pdf
Grade 9 Quarter 4 Dll Grade 9 Quarter 4 DLL.pdf
 
INTRODUCTION TO CATHOLIC CHRISTOLOGY.pptx
INTRODUCTION TO CATHOLIC CHRISTOLOGY.pptxINTRODUCTION TO CATHOLIC CHRISTOLOGY.pptx
INTRODUCTION TO CATHOLIC CHRISTOLOGY.pptx
 
4.16.24 Poverty and Precarity--Desmond.pptx
4.16.24 Poverty and Precarity--Desmond.pptx4.16.24 Poverty and Precarity--Desmond.pptx
4.16.24 Poverty and Precarity--Desmond.pptx
 
INCLUSIVE EDUCATION PRACTICES FOR TEACHERS AND TRAINERS.pptx
INCLUSIVE EDUCATION PRACTICES FOR TEACHERS AND TRAINERS.pptxINCLUSIVE EDUCATION PRACTICES FOR TEACHERS AND TRAINERS.pptx
INCLUSIVE EDUCATION PRACTICES FOR TEACHERS AND TRAINERS.pptx
 
Active Learning Strategies (in short ALS).pdf
Active Learning Strategies (in short ALS).pdfActive Learning Strategies (in short ALS).pdf
Active Learning Strategies (in short ALS).pdf
 
AUDIENCE THEORY -CULTIVATION THEORY - GERBNER.pptx
AUDIENCE THEORY -CULTIVATION THEORY -  GERBNER.pptxAUDIENCE THEORY -CULTIVATION THEORY -  GERBNER.pptx
AUDIENCE THEORY -CULTIVATION THEORY - GERBNER.pptx
 
ClimART Action | eTwinning Project
ClimART Action    |    eTwinning ProjectClimART Action    |    eTwinning Project
ClimART Action | eTwinning Project
 
Choosing the Right CBSE School A Comprehensive Guide for Parents
Choosing the Right CBSE School A Comprehensive Guide for ParentsChoosing the Right CBSE School A Comprehensive Guide for Parents
Choosing the Right CBSE School A Comprehensive Guide for Parents
 
Narcotic and Non Narcotic Analgesic..pdf
Narcotic and Non Narcotic Analgesic..pdfNarcotic and Non Narcotic Analgesic..pdf
Narcotic and Non Narcotic Analgesic..pdf
 
Student Profile Sample - We help schools to connect the data they have, with ...
Student Profile Sample - We help schools to connect the data they have, with ...Student Profile Sample - We help schools to connect the data they have, with ...
Student Profile Sample - We help schools to connect the data they have, with ...
 
The State of AI in Insights and Research 2024: Results and Findings
The State of AI in Insights and Research 2024: Results and FindingsThe State of AI in Insights and Research 2024: Results and Findings
The State of AI in Insights and Research 2024: Results and Findings
 
Multi Domain Alias In the Odoo 17 ERP Module
Multi Domain Alias In the Odoo 17 ERP ModuleMulti Domain Alias In the Odoo 17 ERP Module
Multi Domain Alias In the Odoo 17 ERP Module
 
How to Manage Engineering to Order in Odoo 17
How to Manage Engineering to Order in Odoo 17How to Manage Engineering to Order in Odoo 17
How to Manage Engineering to Order in Odoo 17
 
Measures of Position DECILES for ungrouped data
Measures of Position DECILES for ungrouped dataMeasures of Position DECILES for ungrouped data
Measures of Position DECILES for ungrouped data
 
Incoming and Outgoing Shipments in 3 STEPS Using Odoo 17
Incoming and Outgoing Shipments in 3 STEPS Using Odoo 17Incoming and Outgoing Shipments in 3 STEPS Using Odoo 17
Incoming and Outgoing Shipments in 3 STEPS Using Odoo 17
 
Inclusivity Essentials_ Creating Accessible Websites for Nonprofits .pdf
Inclusivity Essentials_ Creating Accessible Websites for Nonprofits .pdfInclusivity Essentials_ Creating Accessible Websites for Nonprofits .pdf
Inclusivity Essentials_ Creating Accessible Websites for Nonprofits .pdf
 
4.18.24 Movement Legacies, Reflection, and Review.pptx
4.18.24 Movement Legacies, Reflection, and Review.pptx4.18.24 Movement Legacies, Reflection, and Review.pptx
4.18.24 Movement Legacies, Reflection, and Review.pptx
 
Concurrency Control in Database Management system
Concurrency Control in Database Management systemConcurrency Control in Database Management system
Concurrency Control in Database Management system
 
PRINCIPLE & APPLICATIONS OF IMMUNO BLOTTING TECHNIQUES.pptx
PRINCIPLE & APPLICATIONS OF IMMUNO BLOTTING TECHNIQUES.pptxPRINCIPLE & APPLICATIONS OF IMMUNO BLOTTING TECHNIQUES.pptx
PRINCIPLE & APPLICATIONS OF IMMUNO BLOTTING TECHNIQUES.pptx
 

Genetics

  • 1.
  • 2. Genetics • The study of heredity . • Gregor Mendel- Austrian Monk -Father of modern genetics • Studied inheritance of characteristics in green pea.
  • 3. Heredity • The transmission of inherited characters from one generation to another. • Each characteristic is called a trait.
  • 4. Gene Are unit of heredity. factor that control traits. composed of DNA Allele: a pair of genes located at the same place on a homologous chromosome • Dominant genes: those that mask the presence of other corresponding genes • Recessive genes: those whose physical expression (phenotype) is masked in the presence of a dominant gene. • • • •
  • 5. • Phenotype: the physical appearance of a plant or animal because of its genetic makeup (genotype) • Genotype: genetic constitution (makeup) of an individual • Phenotype could be –Brown eyes . • Genotype would be BB.
  • 6. Types of genotype • Heterozygous- when a plant or animal has two genes for different traits (example: tall and short) • Homozygous- when a plant or animal has two genes for the same trait (example: two tall genes, or two short genes
  • 7. Chromosomes • A chromosome is an organized structure of DNA and protein found in cells. • Contains 50% proteins and 50% DNA (deoxyribonucleic acid). • Made of many chromatin threads • Somatic cells contain 46 chromosomes, gametic cells contain 23 chromosomes. • 44 of our chromosomes are AUTOSOMES, while 2 are called sex chromosomes. • Each chromosome contains many GENES that act as a blueprint or set of instructions for the cell.
  • 8.
  • 9. DNA • The DNA in chromosomes forms the basis for the genetic code • DNA is made of long chains of nucleotides. • DNA has a DOUBLE-HELIX structure where 2 strands of nucleotides join and twist around to form a spiral staircase or twisted ladder. • Each nucleotide has 3 parts: • 1. a phosphate group - helps form the backbone of the DNA molecule • 2. a sugar (deoxyribose) - acts as a glue,forms the backbone with phosphate • 3. nitrogen bases - 4 types (guanine, cytosine, adenine, thymine)
  • 10. DNA FUNCTION • Control of cell activities • Replication • Undergo mutations
  • 11. Mitosis • The process of equal partitioning of replicating chromosomes into identical groups. • Stages : interphase, prophase, metaphase, anaphase, telophase and cytokinesis.
  • 12. Meiosis –reduction division • Takes place in gamete or sex cells. • There is double division maintaining the DNA but reducing the chromosomal count to 23. • Meiosis I and Meiosis II
  • 13. MENDELIAN LAWS  Law of Dominance  Law of Segregation    Law of Independent Assortment
  • 14. LAW OF DOMINANCE • Mendel’s first law of inheritance • If two alleles are different i.e. heterozygous ,the trait associated with only one of these will be visible (dominant) while the other will be hidden(recessive)
  • 15. LAW OF SEGREGATION  The separation of allele into separate gametes is law of segregation.  It states that every individual possesses a pair of alleles (assuming diploidy) for any particular trait and that each parent passes a randomly selected copy (allele) of only one of these to its offspring.
  • 16.
  • 17. LAW OF ASSORTMENT  Also known as "Inheritance Law”  It states that separate genes for separate traits are passed independently of one another from parents to offspring
  • 18.
  • 19. Genetic disease • Is an abnormal condition that a person inherits through genes or chromosomes. • Caused by mutations.
  • 21. MULTIFACTORIAL DISORDERS • Also known as Complex disorders. • Associated with the effects of multiple genes in combination with lifestyles and environmental factors. • eg.  Asthma  Cancers  Cleft palate  Diabetes  Heart disease  Hypertension
  • 22. MENDELIAN DISEASES Mendelian diseases are inherited according to the Mendelian Laws.  Dominant  Recessive  Sex linked diseases
  • 23. AUTOSOMAL DOMINANT Individual with an autosomal dominant trait will produce two kinds of gametes with respect to the mutant gene. Half with the mutant gene and half with the normal allele. Offspring of such individual has a 50:50 chances of being affected, provided the other parent is normal.
  • 24.
  • 25. DOMINANT DISEASES  Polycystic kidney  Neurofibromatosis  Retinoblastoma  Marfan syndrome
  • 26. AUTOSOMAL RECESSIVE • Abnormalities occur when both the parents are heterozygous. • Offspring of such parents has a chance of 1:4 being affected. RECESSIVE DISEASES  Cystic fibrosis  Sickle cell anemia  Galactosemia  Phenylketonuria
  • 27.
  • 28. SEX LINKED • A mutant gene on X chromosome in males will express itself readily as there is no normal allele • A mutant gene on X chromosome in females will not express itself in the presence of normal allele. SEX LINKED DISEASES  Hemophilia  Color Blindness  G6PD Deficiency
  • 29.
  • 30. Chromosomal abnormalities • Incorrect number of chromosomes.  nondisjunction : chromosomes do not separate properly. Eg trisomy monosomy Breakage of chromosomes:  Deletion  Duplication  Inversion  Translocation
  • 31. Examples of chromosomal disorder • • • • • Down syndrome: trisomy 21 XXY :klinefelter syndrome male XXX :trisomy female XYY: Jacobs syndrome male XO: Turner syndrome.
  • 32. GENETIC PREDISPOSITION • • • • Also known as genetic susceptibility, genetic risk Genetic predisposition is an inherited risk of developing a disease or condition. Having a genetic predisposition for a disease does not mean that you will get that disease, but your risk may be higher than that of the general population. Genetic testing is able to identify individuals who are genetically predisposed to certain health problems
  • 33. Preventive and Social measures • (a) Eugenics Galton proposed the term eugenics for the science, which aims to improve the genetic endowment of human population. Eugenics has both negative and positive aspects. Negative eugenics The aim of negative eugenics is to reduce the frequency of hereditary disease and disability in the community to the least possible degree. Positive eugenics It seeks to improve the genetic composition of the population by encouraging the carriers of desirable genotypes to assume the burden of parenthood.
  • 34. • (b) Euthenics Studies with mentally retarded (mild) children indicated that exposure to environmental stimulation improved their IQ. Thus the solution of improving the human race does not lie in contrasting heredity and environment, but rather in mutual interaction of heredity and environmental factors. This environmental manipulation is called euthenics and has considerable broader prospects for success • (c) Genetic Counseling The most immediate and practical service that genetics can render in medicine and surgery is genetic counseling. ] Genetic Counseling may be Prospective Retrospective
  • 35. • Most genetic counseling is at present retrospective i.e. the hereditary disorder has already occurred with in the family • The WHO recommends the establishment of genetic counseling centres in sufficient numbers in regions where infections disease and nutritional disorders have been brought under control and in areas where genetic disorders have always constituted a serious public health problem (i.e. sickle cell anaemia and thalassemia) • The methods which could be suggested under retrospective genetic counseling are: • Contraception • Pregnancy termination Sterilization depending upon the attitudes and cultural environment
  • 36. • Other genetic measures Consanguineous marriages: When blood relatives marry each other there is an increased risk in the offspring of traits controlled by recessive genes, and those determined by polygenes. Examples are : Albinism, Alkaptonuria, Phenylketonuria and several others Prenatal Diagnosis: Amniocentesis in early pregnancy (about 14-16 weeks) has now made it possible for prenatal diagnosis of conditions associated with chromosomal anomalies. EXAMPLE Down’ s syndrome
  • 37. Indications for pre-natal diagnosis Indications Methods Advance maternal age ,previous child with chromosome aberration, intrauterine growth delay Cytogenetics (amniocentesis , chorionic villus sampling) Biochemical Disorders Protein essay, DNA diagnosis Congenital Anomaly Sonography, foetoscopy Screening for neural tube defects and trisomy Maternal serum alphafoetoprotein and chorionic gonadotropin
  • 38. Prevention Of Genetic Diseases: How Genetic Testing Can Save Child's Life • Genetic tests performed on newborns and children can help parents prepare their child for the possibility of developing a hereditary disease. DNA tests can tell parents many things about a child's genetic makeup, including whether or not they currently have a genetic disorder or whether they are at risk for developing an inherited disease later in life. • Genetic testing often begins in the womb. Doctors can administer prenatal DNA tests to detect certain genetic disorders, such as Down syndrome, as well as numerous fatal birth defects.
  • 39. • A technician uses a needle to lightly prick your baby 's heel and draw blood. This kind of early attention to genetic information can literally save a child's life, as disease prevention or treatment can often begin immediately.
  • 40. Newborn Screening • Preventing genetic disorders once the child has been born can be helped through newborn screening. This typically involves taking a sample of blood from the baby's heel. • Genetic testing is done in all hospitals to test for a variety of metabolic disorders before symptoms arise. These disorders can potentially lead to severe mental retardation and even death. • If a genetic disorder is detected, metabolic or otherwise, treatment can begin immediately to prevent complications and to ensure that your child has the best possible chances for living a normal, healthy life. • A more thorough list of conditions looked for with genetic testing and their possible preventative measures can be found on the KidsHealth.org article on newborn screening tests
  • 41. • Recognizing Pre-clinical areas Screening tests are available for the early diagnosis. Example- Heterozygotes for phenylketonuria can be detected by a phenylalanine tolerance test Detection of Genetic carriers Especially the inborn errors of metabolism The female carriers of Duchenne type of muscular dystrophy, an X- linked disorder can now be detected by elevated levels of serum creatine kinase in 80 percent of carriers.
  • 42. • Specific protection Increasing attention is now being paid to the protection of individuals and whole communities against mutagens such as X-rays and other ionizing radiations and also chemical mutagens.
  • 43. • • • • • Need of individualized and specific education about how to: Check regularly for the disease. Follow a healthy diet. Get regular exercise. Avoid smoking tobacco and too much alcohol. Get specific genetic testing that can help with diagnosis and treatment.
  • 44. Conclusion • Disease prevention is an integral part of parenthood, and prevention of genetic disorders can help us take this one step further to ensure that the child lives the healthiest life possible.