Modules 6-7

Question 1

Compound heterozygote

Answer 1

two different mutant alleles for the same gene

Question 2

genetic heterogeneity

Answer 2

mutations in different genes produce the same phenotype

Question 3

manifesting heterozygote

Answer 3

heterozygous for what is usually a recessive condition but manifests recessive phenotype

Question 4

co-segregation

Answer 4

to map a disease associated gene, a marker is identified that is always inherited with the disease

Question 5

un element

Answer 5

genetic marker linking blood group type on same chromosome

Question 6

linkage analysis

Answer 6

tracking disease genes

Question 7

LOD

Answer 7

logarithm of odds. the higher the score, the more confidence of linkage

Question 8

absent essentials

Answer 8

loss of function, recessive

Question 9

monkey wrench

Answer 9

gain of function, dominant

Question 10

inborn errors of metabolism

Answer 10

enzyme deficiencies, recessive

Question 11

cystic fibrosis

Answer 11

autosomal homozygous recessive, loss of function

Question 12

marfan syndrom

Answer 12

autosomal dominant, monkey wrench, gain of function

Question 13

autosomal dominant

Answer 13

does not skip a generation, gain of function

Question 14

autosomal recessive

Answer 14

skips a generation, loss of function

Question 15

pedigree

Answer 15

family relationships of phenotypes

Question 16

conditional probability

Answer 16

probability of offspring with genotype when unsure of parent genotype

Question 17

incomplete dominance

Answer 17

one allele is not fully dominant

Question 18

codominance

Answer 18

neither allele is dominant over the other, both are expressed

Question 19

pleiotropy

Answer 19

one gene influences multiple phenotypes

Question 20

epistasis

Answer 20

one gene affects or masks the expression of another

Question 21

penetrance

Answer 21

on or off of genotype

Question 22

lethal genotype

Answer 22

causes death before reproduction

Question 23

lethal recessive

Answer 23

spontaneous abortion

Question 24

phenocopies

Answer 24

environmentally caused inherited traits

Question 25

x-inactivation

Answer 25

one copy of an x chromosome is inactivated in females

Question 26

barr body

Answer 26

inactive x chromosome

Question 27

lyonization

Answer 27

the process of x chromosome inactivation

Question 28

mitochondrial DNA

Answer 28

inherited from mother, no crossing over

Question 29

heteroplasmy

Answer 29

some mitochondrial chromosomes have mutations and others don’t. randomly distributed

Question 30

3-parent babies

Answer 30

spindles and chromosomes are removed from the egg and injected into the donated egg before being fertilized with the sperm

Question 31

linkage

Answer 31

genes located close to each other are inherited together

Question 32

recombinants

Answer 32

mixing of maternal and paternal alleles on one chromosome

Question 33

recombination frequency

Answer 33

genetic distance measure. the frequency in which a chromosomal crossover will happen during meiosis. 1 centimorgan = 1% recombination

Question 34

unlinked genes

Answer 34

located far apart on the same chromosome and are not inherited together.

Question 35

exome sequencing

Answer 35

sequence exons, protein coding regions