Chapter 12: Human Genetics

Humans:
• 23 Pairs of Chromosomes (22 Autosomes and 1 Sex)
• 46 Individual Chromosomes
• Sex: X and Y (female: XX) ( male: XY)
o 50/50 Chance of either sex (determined by sperm
• Mutations: mistakes on or in chromosomes (not always bad)
o Some good and some bad

Chromosomal Mutations:
• Usually during Interphase while chromosomes are long and thin, and
replicating himself
1. Deletion: loss of an allele
2. Duplication: an allele is duplicated twice
3. Inversion: alleles are reversed
4. Translocation: alleles break off and attach to another chromosome

Gene Mutations:
• Mistakes on the allele
1. Point Mutations: one of the base pairs is switched; out of order
2. Frame Shift: Base pairs are not read correctly

Nondisjunction:
• Failure of the tetrads to separate during meiosis (one cell has too many
and one too few)
1. Down Syndrome: extra 21st chromosome
• Thick tongue, webbing between fingers and neck, mentally
retarded
2. Turner’s Syndrome: lack of an X chromosome in females (XO)
• Sterile, short
3. Klinfelter’s Syndrome: sperm has X and Y (XXY)
• Male, low IQ, sex organs of both sexes, sterile

Sex-linked Traits:
• Carried on X or Y
Normal Female: XC XC Normal Male: XC Y
chromosomes Carrier Female: XC Xc Colorblind Male: Xc Y
• Colorblindness: found Colorblind Female: X Xc c on the X
chromosome

• Hemophilia: bleeder’s Normal Female: XH XH Normal Male: XH Y disease;

found on the X Carrier Female: XH Xh Bleeder Male: XhY
chromosome Bleeder Female: XhXh
Blood Types:
• A: (IA IA) or (IA i)
• B: (IB IB) or (IB i)
• AB: (IA IB)
• O: (i i)