Terminology Review

Chromatin Loose DNA

Chromosome Tight DNA
Sister Chromatid Duplicate
Homolog Same Type; Diff. Alleles
Tetrad Homolog pairs (diploids)

Cell Divisions
1. Interphase (G
1
, S, G
2
) PMAT
a. Prophase Preparation
b. Metaphase Middle alignment
c. Anaphase Apart
d. Telophase Turn around
e. Cytokinesis Cell movement
2. Mitosis
a. 1 division 2 identical daughters
b. Ploidy conserved (2n 2n)
3. Meiosis
a. 2 divisions 4 unique daughters
b. Ploidy halved (2n n)
c. Synapsis & crossing over





Chromosomal Disorders


1. Non-disjunction
a. Failure of separation (homologs or chromatids)
b. Trisomy = n+1 (e.g., Down syndrome; Trisomy 21)
c. Monosomy = n1 (e.g., Turner syndrome, single X)
2. Structural Alteration
a. Deletion: Fragment loss; Missing genes
i. e.g., Cri du chat Chr-5 fragment loss
b. Duplication: Trinucleotide expansion
i. e.g., Fragile X (CGG)
29
repeat
c. Translocation: Fragment relocated
i. e.g., Burkitts Lymphoma t(8;14)

Genetic Diversity
1. Crossing over (prophase-I)


2. Independent assortment (metaphase-I)

Daughter
Chr-1: ABC
Chr-2: DEF
Chr-3: HIJ
Chr-1: abc
Chr-2: def
Chr-3: hij
Chr-1: ABC
Chr-2: def
Chr-3:hij
Mendelian Concepts
1. ABO Blood-Typing
Genotype
Phenotype (Blood
Type)
Notes
I
A
I
A
or I
A
i A Complete
Dominance I
B
I
B
or I
B
i B
I
A
I
B
or I
A
I
B
AB Co-Dominance
ii O Recessive
Universal Donor: Type-O; NO Antigens expressed
Universal Acceptor: Type-AB; BOTH antigens recognized

2. Sickle-Cell Anemia
Genotype Phenotype Notes
Hb
A
Hb
A
Normal Wild-Type
Hb
S
Hb
S

Sickle-Cell
(Severe)

Hb
A
Hb
S
Sickle-Cell (Mild)
Malaria Resistant
Incomplete
Dominance









Probability Genetics
1. Cystic Fibrosis: Autosomal Recessive (dd)
Defective Cl
-
channel secretion of abnormally thick
mucus that plugs lungs, pancreas, and liver
a. Heterozygous cross: Dd x Dd
Dd x Dd D d
D DD Dd
D Dd dd
P
disease
= P
dd
=
2. Huntingon Disease: Autosomal Dominant (D_)
Cytotoxicity 2
o
accumulation of mutant cytoplasmic
protein. Predominantly affect caudate nucleus &
striatum (learning, memory, and motor centers)
a. Heterozygous cross: Dd x Dd
Dd x Dd D d
D DD Dd
D Dd dd
P
disease
= Either P
DD
or P
Dd
= (1/4) + (1/2) =
***Either/OR ADDITION***

Q: What is the probability for Cystic Fibrosis (P
CF
) and
Huntingtons (P
H
) from heterozygous parents (for both
diseases)?
A: P
CF
= ; P
H
= (P
CF
)(P
H
) = (1/4)(3/4) = 3/16
***And MULTIPLICATION***



3. Menkes Kinky-Hair Disease: Sex-linked Recessive
Copper transport disease. Structure/function defects
in bone, skin, hair, blood vessels, and nervous system.
a. Disease criteria (X
d
X
d
); (X
d
Y)
b. Maternal carrier: XX
d
x XY
XX
d
x
XY X Y

X XX XY
X
d
XX
d
X
d
Y
P
disease
= (1/4)ONLY Male affected
c. Paternal carrier: XX x X
d
Y
XX
x
X
d
Y X
d
Y

X XX
d
XY
X

XX
d
XY
P
disease
= 0No paternal transmission

4. Sex-Determination
a. *their son/daughter* P
sex
= n/a
b. *will have a son/daughter* P
sex
= 1/2

Q: What is the probability that their son will have
Menkes Kinky-Hair disease? Father affected...
A: Cross X
d
Y x XX XY P = 0 (mom provides X)




Pedigree Analysis: Gender bias? Zebra hunting? Trial run?
1. Autosomal Dominant
a. Majority of every generation

2. Autosomal Recessive
a. Minority of some generations




3. Sex-Linked (Recessive)
a. Gender bias for males

4. Mitochondrial Inheritance
a. Strictly maternal inheritance



Population Genetics: Hardy-Weinberg
1. Allelic & genotypic frequency remain constant over time
2. Requirements
a. Large population
b. No mutation, migration, natural selection
c. Random mating w/sexual reproduction
3. Generic Example: Alleles A & a
a. Single allele:
A
= p;
a
= q
*** p + q = 1 ***
b. Homozygous:
AA
= p
2
;
aa
= q
2

c. Heterozygous:
Aa
= 2pq
*** p
2
+ 2pq + q
2
= 1 ***














Q: If 9% of the African population has severe sickle
cell disease (ss), then what percent is Malaria-
resistant (Ss)?
A: ss = q
2
= 0.09 = 9E-2 s = (s
2
) = 3E-1 = 0.3
p = 1 q = 1 0.3 = 0.7
Ss = 2pq = 2(0.7)(0.3) = 2(0.21) = 0.42 = 42%

Q: What is the allelic frequency of universal donors?
Random blood-typing provides the following data:
Type-A antigen* 25
Type-B antigen* 121
Non-antigenic 75
Total 221
*Homozygous genotypes
A: Type-B = aa = p
2
= 25/221 = yuk! p = 1 q = 0.3
Type-A = bb = q
2
= 121/221 = 0.5 q = 0.7
Type-AB = ab = 2pq = 2(0.3)(0.7) = 0.42