Genetics and Pedigree Analysis

Question 0

karyotype

Answer 0

full set of chromosomes in a person’s cells

Question 1

FOXP2 gene

Answer 1

responsible for gift of language

Question 2

genetic determinism

Answer 2

the view that genes (genotypes) cause traits (phenotypes) and can no longer be altered. Your genes dictate who you are.

Question 3

Agouti gene

Answer 3

In mice, responsible for obesity, and susceptibility to cancer and diabetes. Yellow coat.

Question 4

Epigenetics

Answer 4

the study of the set of the chemical reactions and the factors that trigger the activation / deactivation of parts of the genome at strategic times and locations.

Question 5

DOHaD

Answer 5

Development of health disease theory. Mother’s diet during pregnancy and diet as infants can cause critical changes that stick into adulthood.

Question 6

Dutch Hunger Winter

Answer 6

An event associated with increased risk of diabetes and hypertension in the succeeding generation of Dutch women.

Question 7

DNA methylation

Answer 7

-CH3 tag. Nutrients like folic acid, B vitamins, etc are said to be key components.

Question 8

Proband

Answer 8

first affected individual in a family who brings genetic disorder to the attention of the medical community

Question 9

Pedigree

Answer 9

A graphic representation of a medical family history of disease using symbols.

Question 10

Variable expressivity

Answer 10

A confounding factor in Mendelian genetics. Intrafamilial variability in the manifestation of a disease

Question 11

Clinical / genetic homogeneity

Answer 11

A confounding factor in Mendelian genetics. there are a number of genes that can give rise to a similar phenotype

Question 12

Sex-influenced/sex limited gene expression

Answer 12

A confounding factor in Mendelian genetics

Question 13

Assortative mating

Answer 13

A confounding factor in Mendelian genetics. Being attracted to the same phenotype

Question 14

Small paternity size.

Answer 14

A confounding factor in Mendelian genetics. Having small number of offspring.

Question 15

Autosomal dominant

Answer 15

50% chance of being affected, both males and females.
No generation skipping
Male-male transmission occurs.
Aa and AA

Question 16

Autosomal recessive

Answer 16

Consanguinity important factor
If one affected parent and other is carrier: 50% chance of being affected
If 1 affected, other normal: 100% carriers
If both affected: 100% affected
If both carriers: 50% affected
Skips generations
aa

Question 17

X-linked recessive

Answer 17

Higher incidence in males
no father-son transmission
Affected father: all daughters carriers, all sons normal.
carrier mom, normal dad: 25% normal daughter, 25% normal son, 25% carrier daughter, 25% affected son

Question 18

X-linked dominant

Answer 18

Male or female child of affected mother has 50% chance of being affected
Affected father: all daughters affected (father’s X-chromosome) no male children affected

Question 19

Multifactorial inheritance

Answer 19

genes and environmental factors interplay

Question 20

heteroplasmy

Answer 20

mixture of mutated and non-mutated mitochondria

Question 21

homoplasmy

Answer 21

either all mutated or all non-mutated mitochondria

Question 22

triplet expansion disorders

Answer 22

An expansion of segment of DNA that contains a repeat of 3 nucleotides. Healthy individuals have a threshold for a number of repeats. Excess causes disease.

Question 23

genomic imprinting

Answer 23

only 1 copy of gene expressed. expression of gene is variable depending on which parent the gene came from.