final exam Flashcards

You may prefer our related Brainscape-certified flashcards:
1
Q

concordance

A

the percentage of twin pairs that are concordant for a trait

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

importance of genetic testing

A

A sense of relief from uncertainty
A greater understanding of your health and your cancer risk
Information to help make informed medical and lifestyle decisions
Opportunity to help educate other family members about the potential risk

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

RELPs

A

genetic markers, which are often used to follow the inheritance of DNA through families.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Genome wide association studies

A

is an observational study of a genome-wide set of genetic variants in different individuals to see if any variant is associated with a trait
-examine the nonrandom association of genetic markers and phenotypes to locate genes that contribute to the expression of traits

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

somatic cell hybirdization

A

a technique which allows the manipulation of cellular genomes by protoplast fusion
-assign a gene to particular human chromosome
-which chromosome contains a gene of interest

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

deletion mapping

A

specialized genetic mapping technique that enables scientists to determine the location of a specific gene on a chromosome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

fluorescence in siti hybridization (FISH)

A

a molecular cytogenetic technique that allows the localization of a specific DNA sequence or an entire chromosome in a cell
-uses a single stranded complementary DNA probe for the gene
-red and green fluorescence spots are produced by probes that are specific to DNA sequences on chromosomes 15

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

circle in pedigree

A

female

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

square in predigree

A

male

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

shaded

A

affected

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

line through

A

deceased

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

principle of segregation

A

alleles separate during meiosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

independent assortment

A

alleles at one locus sort independently from alleles at another locus

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

recombination

A

alleles sort into new combinnations

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

pedigree

A

pictorial representation of a family history; a family tree that outlines the inheritance of one or more characteristics

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

proband

A

the person from whom the pedigree is initiated

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

dizygotic twins

A

nonidentical twins

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

monozygotic twins

A

identical twins

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

concordant trait

A

the trait shared by both members of a twin pair

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

complete linking leads to

A

nonrecombinant gametes and nonrecombinant progeny

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

crossing over with linked genes leads to

A

recombinant gametes and recombinant progeny

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

for single crossovers, the frequency of recombinant gametes is half the frequency of crossing over because?

A

each crossover takes place between only two of the four chromatids of a homologous pair

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

how does level of recombination vary

A

-among species
-among chromosomes of a single species
-between males and females

24
Q

three-point testcross

A

can be used to map three linked genes

25
Q

constructing a genetic map with three-point test cross

A

-more efficient
-the order of the three genes can be established in a single set progeny
-some double crossovers can usually be detected
-provides more accurate map distance
-determine the gene order
-determine the location of crossovers

26
Q

steps in determining gene order in a three point cross

A
  1. identity the nonrecombinant progeny (two biggest numbers)
    2.idenity the double crossover progeny (two smallest number)
  2. compare the phenotypes of double crossover progeny with the phenotypes of nonrecombinant progeny, they should be alike in two characteristic and differ in on
    4.the characteristic that differs between the double crossover and the nonrecombinant progeny is encoded by the middle gene
27
Q

recombination frquencies

A

sum of all single and double crossovers/total progeny

28
Q

coefficient of coincidence

A

number of observed double crossovers/ number of expected double crossovers

29
Q

interderence

A

1-coefficient of coincidence

30
Q

what negative interference value indicate?

A

more double crossovers took place than expected on the basis of single crossover frequencies

31
Q

how does a genetic map differ from a physical map

A

genetic maps are based on rates of recombination and physical maps are based on physical distance

32
Q

coupling (cis )

A

one chromosome contains both wild type alleles, one chromosome contains both mutant alleles

33
Q

repulsion ( trans)

A

wild type allele and mutant allele are found on the same chromosome

34
Q

walter suttons chromosome theory of inheritance

A

genes are physically located on chromosomes

35
Q

Nettie Stevens and Edmund Wilson

A

sex was associated with a specific chromosome in insects

36
Q

Calvin bridges

A

nondisjunction of X chromosomes was related to the inheritance of eye color in drosophila

37
Q

Harriet Creighton and Barbara Mcclintock

A

intrachromosomal recombination was the result of physical exchange between chromosomes

38
Q

triangle

A

twins
with line means identical

39
Q

special features of human biology and culture

A

-controlled mating not possible
-long generation time
-small family size

40
Q

colored circle in the middle of shape

A

obligate carrier
-carries the gene but does not have the trait

41
Q

diamond

A

unknown sex

42
Q

line through middle of shape

A

asymptomatic carrier
-unaffected at this time but may show later

43
Q

number in the middle

A

multiples persons

44
Q

p points at shape

A

proband
-first affected family member

45
Q

question mark in shape

A

family history of person is unknown

46
Q

line between siblings

A

consanguinity

47
Q

brackets around shape

A

abdoption

48
Q

autosomal recessive traits

A

-appears equally in males and females
-tends to skip generations
-more likely to appear among progeny of related parents
-affected offspring’s usually born to unaffected parents

49
Q

autosomal recessive traits often appear in pedigrees in which there have been consanguine mating because these traits

A

appear only when both parents carry a copy of the gene for the trait, which is more likely when the parents are related

50
Q

-autosomal dominant traits

A

-appear equally in males and females
-does not skip generations
-unaffected people do not transmit the trait
-affected people have at least one affected parent
-when one parent is affected (heterozygous) and the other parent is unaffected, approximately half of the offspring will be affected

51
Q

familial hypercholesterolemia

A

autosomal dominant
-blood cholesterol is greatly elevated
-defect in LDL receptor

52
Q

when might you see an autosomal dominant trait skip generations

A

it might skip generations when a new mutation arises, or the trait has incomplete penetrance

53
Q

X-linked recessive traits

A

-appear more often in males
-affected male cannot pass trait to son but can pass allele to daughter who is unaffected but can pass it to her sons who will be affected
-Classic hemophilia is inherited as an X-linked recessive
-trait skips generations
-all daughters of affect fathers are carriers, never passed from father to son

54
Q

how could you distinguish between an autosomal recessive trait with higher penetrance in males and an X-linked recessive trait?

A

X linked recessive traits are only passed to sons from mothers, not from fathers

55
Q

X-linked dominant trait

A

-do not skip generations
-affects both males and females
-affected males pass trait to all their daughters, none of their sons
-affected females (if heterozygous) pass the trait on to about half of their sons and half of their daughters
-often more females than males

56
Q

Y-linked traits

A

-appear only in males
-all male offspring’s are affected
-passed father to all son