Chapter 8 Reading

8.12, 8.13, 8.14, 8.15, 8.17, 8.19, 8.20, 8.21

Important Concepts

Cell Reproduction: Mitosis and Meiosis

MeiosisAssisted reproductive technologyErrors in meiosis (nondisjunction) and aneuploid syndromes

Homologous Chromosomes

P M

P = PaternalM = Maternal

Human Meiosis (Males)

46 Chromosomes23 Chromosomes

23 Chromosomes

Human Meiosis (Females)

46 Chromosomes23 Chromosomes

23 Chromosomes

Male Meiosis

Male Female Meiosis

G1/S/G2

Male Female Meiosis

G1/S/G2

Meiosis stops

Male Female Meiosis

X

X

G1/S/G2

Egg

Fertilization

46 Chromosomes23 Chromosomes

23 Chromosomes

Zygote

Egg Cell and Sperm Cells

Early Embryonic Development (~ 7 days)

In Vitro Fertilization (IVF)

Sperm cells

Embryos (4-cell stage)

Down Syndrome Karyotype

Trisomy 21

Chapter 9 Reading

9.1, 9.2, 9.3, 9.4, 9.5, 9.6, 9.7, 9.8, 9.9, 9.10, 9.12, 9.13, 9.16, 9.20, 9.21, 9.22

Important Concepts

Patterns of Inheritance(Transmission Genetics)

History of geneticsSimple probability rulesGenes and allelesGenotype/PhenotypeSegregation and independent assortmentMeiosis and Mendelian geneticsHuman geneticsPedigreesMultiple allelesX-linked geneticsGenetic testing

1860s 1900 1910 1950s

Transmission Genetics

Cytogenetics

Population Genetics

Molecular Genetics

2000s

A Brief History of Genetics

Gregor Mendel

(1822-1884)

Gene for hair color

Gene for hair colorWith two possible alleles:A and a

P M

Homologous Chromosomes P = PaternalM = Maternal

Homologous Chromosomes

P M

P = PaternalM = Maternal

AA

Homozygous Dominant Genotype

Homologous Chromosomes

P M

P = PaternalM = Maternal

aa

Homozygous Recessive Genotype

Homologous Chromosomes

P M

P = PaternalM = Maternal

aA

Heterozygous Genotype

Homologous Chromosomes

P M

P = PaternalM = Maternal

Aa

Heterozygous Genotype

Cystic Fibrosis

1/2500 people have CF

1/25 are asympotomatic “carriers” of CF mutation

Most common recessive inherited disorder in Caucasians in U.S.

Congested lungs

Highly susceptible to lung infections

Defective Chloride ion transport protein

Huntington’s Disease

EPO Sensitive AlleleAnd Olympic Glory

Seven Olympic medals

Eero Mäntyranta

Recessive Inheritance

Dominant Inheritance

Red Blood Cells

Agglutination Test for ABO Blood Type

Red Blood Cells

Hemoglobin

X Chromosome

155 Million base pairs (bp)1606 Genes

Muscular Dystrophy (Duchene)

Adrenoleukodystrophy

Hemophilia A

Hemophilia B

Green Color Blindness

Red Color Blindness

X-linked Recessive Traits

X Chromosome

Female Male

Pedigree of European Royal family

RrYy RrYyx

Genetic TestingDisease-related Diagnosis

Current diseaseRisk of future diseaseCarrier status

PharmacogenomicsEfficacy of therapeutic drug treatment

Tissue TypingTransplantation

Age-related Macular Degeneration, Asthma, Alzheimer's Disease, Atrial Fibrillation, Breast Cancer, Celiac Disease, Colorectal Cancer, Exfoliation Glaucoma XFG, Crohn's Disease, Multiple Sclerosis, Myocardial Infarction, Obesity, Prostate Cancer, Psoriasis, Restless Legs, Rheumatoid Arthritis, Type 1 Diabetes and Type 2 Diabetes.

• For only $985, we scan over one million variants in your genome• Calculate genetic risk for 18 diseases based on the current literature• Find out where your ancestors came from and compare your genome with others

Prenatal (CVS, amniocentesis, PGD)

Genetic Testing

Post-natal (blood, cheek cells)

8-cell Embryo

Pre-implantation Genetic Diagnosis (PGD)

Protein Functions

EnzymesMembrane transportIntercellular transport (hemoglobin)Hormones (insulin)ReceptorsAntibodies (immune system)Toxins (anthrax toxin)FibersMotive forceBioluminescence/Fluorescence

Chapters 10 Reading

10.1, 10.2, 10.3, 10.6, 10.7, 10.8, 10.16

Important Concepts

Molecular Biology of the Gene(Molecular Genetics)

Structure of DNA, RNA and Proteins (review)Gene ExpressionTranscription/TranslationThe genetic codeMutations, mutagenesis and mutagensMolecular genetic basis of alleles (e.g. sickle cell anemia)

ATG GTG CAC TTG ACC CCC GAG GAG

met - val - his - leu - thr - pro - glu - glu

5’ 3’

(N) (C)

ATG GTG CAC TTG ACC CCC GTG GAG

met - val - his - leu - thr - pro - val - glu

5’ 3’

(C)(N)

HbA

HbS

Molecular Basis of Sickle-Cell Allele

Hb-A

Hb-S

Hb-A

Normal and Mutant ß-globin Proteins

Mutant Hb Proteins

Normal Hb Protein

Pigmentary changes, premature skin aging, neoplasia

Malignant tumors may develop as early as ages 3-4.

XP is often fatal before the age of 10 (Two-thirds die before 20)

Xeroderma pigmentosum