LECTURE 13 - Human Genetics

Question 1

Why is man not used for genetic investigation (2)?

Answer 1

1. Long life cycle
2. Low number of progeny

Question 2

WHAT is used to analyze the inheritance of traits?

Answer 2

pedigree analysis / family history

Question 3

SYMBOLS FOR PEDIGREE CHART

1. Female
2. Male
3. Carrier
4. Sex unspecified

Answer 3

1. circle
2. square
3. half shaded
4. diamond

Question 4

palatandaan in making a pedigree chart (3)

Answer 4

1. put the generation number
2. number all the offspring per parents to avoid confusion
3. ALWAYS remember to half-shade a carrier

Question 5

PATTERNS OF INHERITANCE

Answer 5

1. Autosomal Dominance
   - due to dominant allele
   - free lobes
2. Autosomal Recessive
   - due to homozygous recessive alleles
   - inability to roll tongue
3. Sex-linked Dominance
   - defective enamel
4. Sex-linked Recessive
   - colorblindness
5. Sex-influenced
   - baldness

Question 6

which of the PATTERNS of inheritance NEVER skips a generation

Answer 6

1. Autosomal Dominant
2. Sex-linked Dominant

Question 7

other terms for x-linked recessive and x-linked dominance

Answer 7

• x-linked recessive: mother to son transmission
• x-linked dominant: father to daughter transmission

Question 8

SEX LINKED DOMINANCE

• affected _____ with unaffected ____ will have an _____ _______

Answer 8

• husband
• wife
• affected daughter

Question 9

SEX LINKED RECESSIVE

• affected _____ with unaffected ____ will have an _____ _______

Answer 9

• wife
• husband
• affected son

Question 10

SEX INFLUENCES

• trait has ___ ____ in ___ sex

Answer 10

• greater expressivity
• one

Question 11

study of chromosomes

Answer 11

cytogenetics

Question 12

CHROMOSOMES

• in humans, chromosomes are grouped based on ____
• how many groups are there?

+ determine the chromosome numbers, size, and type per group

Answer 12

A = 1, 2, 3
- L / Median

B = 4, 5
- L / Sub-Median

C = 6 to 12, X
- M / Sub-Median

D = 13, 14, 15
- M / Acrocentric

E = 16, 17, 18
- S to M / Median or Sub-Median

F = 19-20
- S / Approx. Median

G = 21, 22, Y
- VS / Acrocentric

Question 13

other term for down syndrome?

+ occurs due to?

Answer 13

chromosome 21 or 22
(22 II + I21 or 22, XX, XY)
- oocyte of female arrested at prophase 1 due to age

Question 14

what is D trisomy syndrome?

Answer 14

chromosome 13, 14, 15
(22 II + I13,14,15)

Question 15

OTHER TERM FOR trisomy 18?

Answer 15

Edward’s Syndrome

Question 16

other term for klinefelter’s syndrome?

Answer 16

XXY

• male with extra X chromosome

Question 17

other term for jacob’s syndrome?

Answer 17

XYY

Question 18

other term for turners syndrome

Answer 18

XO

Question 19

WHAT syndrome is XXX?

Answer 19

Triplo X Syndrome / Trisomy X

Question 20

DISEASE that have absence of thyroid hormones?

Answer 20

Congenital hypothyroidism

Question 21

DISEASE that have high levels of male sex chromosomes in both boys and girls

Answer 21

Congenital adrenal hyperplasia

Question 22

DISEASE that cannot synthesize gal-1 uridyl transferase (cant use galactose)

Answer 22

Galactosemia

Question 23

DISEASE that cannot synthesize phenylalanine hydroxylase

Answer 23

Phenylketonuria

Question 24

DISEASE that have persistence fetal hemoglobin

Answer 24

Thalassemia (chronic anemia)

Question 25

DISEASE that have mutation in crystallin gene protein in eyes

Answer 25

Congenital cataract

Question 26

DISEASE that have loss ability to organize thoughts and perception leading to delusions

Answer 26

Schizophrenia

Question 27

GENES that cause eating disorders that also control what traits (6)?

Answer 27

1. Perfectionalism 2. orderliness 3. Low tolerance for new situations 4. Maturity fears 5. Low self-esteem 6. Overall anxiety

Question 28

genes that regulate neuro transmitters are (2)?

Answer 28

1. dopamine 2. serotonin

Question 29

DISORDER that is caused by deficiency in neurotransmitters like serotonin and norepinephrine

Answer 29

Major Depressive Disorder

Question 30

DISORDER that has weeks or months of depression alternate with periods of mania

Answer 30

Bipolar effective disorder OR Manic Depression

Question 31

what protein modulates levels of mood altering substances? + author

Answer 31

phenylethylamine Glasiuzz

Question 31

who studied 4000 sets of twins abt their genes and happiness? + findings

Answer 31

David Lykken 50% of one's satisfaction is due to genes that influence the trait circumstantial factors only contrubute 8% (income, religion, marital status, education)

Question 32

Kita 2009 findings abt smiling?

Answer 32

smiling: 1. lowers blood pressure 2. boosts immunity 3. release natural pain killers

Question 33

HERITIBILITY % of IQ for the ff ages: 1. pre schoolers 2. adolescents 3. adults

Answer 33

40% 60% 80%

Question 34

heavy smoking is linked to chromosome ___

Answer 34

22 at 27-29 cM

Question 35

AUTHOR predicted that the MAOA (monoamine oxidase A) gene predicts happiness in women

Answer 35

chen et al. **males cancel out positive effect of the gene so they are less happy