CHAPTER 11 CYTOGENETICS [through page 210]

Terms - Karyotype - ideogram - polyploidy - aneuploidy

Topics

Karyotype preparation - swelling, washing, untangling, staining, banding, FISHing

Nondisjunction in meiosis I and meiosis II - oocyte arrest and maternal age.

Down syndrome - trisomy 21 - pre-natal and post-natal death - prevalence and early

onset of Alzheimer's disease - 14/21 Robertsonian translocation [p. 211]

Sex chromosome anomalies - Turner, Klinefelter, Jacobs,…

Somatic cell nondisjunction and chromosomal mosaicism
 

Review questions - 1, 3, 8   Applied questions - 1, 2, 5, 7
 
 

CHAPTER 4 - MENDEL'S LAWS

Terms - Allele - wild-type, common, normal, abnormal, mutant, variable -  Single

Mendelian traits - test-cross - Punnett square - consanguinity

Topics

XP - Sun is a Monster

Review questions - 1, 2, 3, 5   Applied questions - 2, 4, 7, 10, 12
 
 

CHAPTER 6 - MATTERS OF SEX

Terms - Sex chromosomes - SRY - hemizygous

Topics

SRY and XX Males, XY females

X-inactivation - Barr body - Mary Lyon - manifesting heterozygote [e.g., hemophilia]

Color vision - biological and genetical bases for color vision - rods + cones and opsins + retinal

Prevalence of red-green colorblindness in males vs. females.

X-dominant pedigree - CGH
 

Review questions - 2, 3, 7, 8   Applied questions - 2, 4, 7, 8
 
 

CHAPTER 8 - DNA STRUCTURE AND REPLICATION
 

Francis Crick - "a genetic material must carry out 2 jobs."

Chargaff's rules and Watson and Crick's Double Helix Model of DNA

Complementary Base Pairing and DNA replication

UV Damage to DNA - Excision Repair of DNA Damage - Xeroderma pigmentosum [XP]
 
 

Review Question 3  Applied Questions 2, 4
 
 

CHAPTER 10 - GENE MUTATION

Spontaneous vs. Induced Mutation - Mutagen

Somatic [sporadic; non-hereditary] vs. Germinal [constitutional; hereditary] Mutation

Mutations - Missense, Nonsense, Frameshift, Addition, Deletion, Triplet Repeat Expansion

Common Mutations in Man - SCA [CTC -> CAC]; Tay-Sachs - + TATC; CF - _F508; HD -

CAG Repeat Expansion

Balanced Polymorphisms
 
 

Review Questions - 1, 7 Applied Questions 1, 3, 10
 
 

CHAPTER 7 COMPLEX TRAITS: "IT RUNS IN THE FAMILY"

Terms  - Inherited, non-Mendelian - polygenic - multifactorial - heritability - coefficient of  relationship -

monozygotic twins - dizygotic twins - concordance - eugenics

Topics

Polygenic or additive model of skin color

Multifactorial influence on fingerprints - monozygotic twins

Complex trait - obesity - leptin, lipoprotein lipase
 

Review questions - 2, 6, 9   Applied questions - 1, 2, 8