Genetics Biology test 2 Flashcards

1
Q

Loss-of-function mutation

A

hypomorph (decrease)
null/amorph (absence)

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

Gain-of-function mutation

A

neomorph-mutation in the coding region leads to a new function
antimorph-altered molecular function that acts antagonistically

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

neutral mutation

A

a change in DNA sequence but no effect on protien function

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

co-dominance

A

if both alleles are present then both phenotypes are shown
Example: if a red and white flower crossed, then the offsrping will have red and white petals

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

epistasis

A

epistasis interactions occur when phenotypes are due to mutations in the same pathway, and thus can obscure each other
stands upon or hides another trait

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

complementation analysis

A

can determine if two mutations causing a similar phenotype are alleles of the same gene
good allele compensates for mutated allele

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

recessive epistasis

A

homozygous recessive hides other gene phenotype

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

dominant epistasis

A

dominant allele hides the other gene phenotype

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

complementary gene interaction

A

needed a dominant allele at two genes

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

novel phenotypes

A

heterozygous produced a new phenotype
example - squash
if A-B- disc
if A-bb or aaB- sphere
if aabb long

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

allelic series

A

can result in multiple dominant recessive relationships

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

incomplete dominance

A

can result in intermediate phenotypes
example: a cross between a red and white flower produce a pink flower

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

penetrance

A

how many affected individuals (have the genotype) express a phenotype

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

expressivity

A

the strenght of the phenotype

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

a major tool for analyzing inheritance patterns is

A

pedigree analysis
- detect (X-linked vs autosomal modes of inheritance)
- Major tool of genetic counselors to help advise

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

pedigree symbols

A

square - male
circle - female
line between male and female - mating
if there is a ^ then dizygotic twins
if there is a triangle then monozygotic twins
colored in shapes - affected individuals
half colored in shaped - heterozygous
colored circle within a normal circle - carrier of sex-linked recessive gene

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

x-linked inheritance

A

inheritance related to sex of parent carrying mutant allele

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

maternal effect

A

phenotypica traits are determined by the genotype of the mother rather than the zygotic genome
example - snails shell coiling

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

lethal mutations

A

can be recessive or dominant
if organism hase both affected genes then they die early in development

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

mitochondrial inheritance

A

shows strict maternal pattern of inheritance

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

autosomal chromosomes

A

22 pairs
contain autosomal traits

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

sex chromosomes

A

X and Y
last two pair of chromosomes

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

genoetypic sex determination

A

sex determination dependent on sex chromosomes

24
Q

genic sex determination

A

organism doesnt have sex chromosomes, rather differnt alleles at one or a few loci in the genome define sex or “mating type”

25
non-chromosomal mechanisms
temperature dependency in some reptiles
26
embryonic development
if SRY on the y chromosome - wolffian ducts form the vas deferns and the gonads into testes if no SRY region or the y chromosome - mullerian duct will mature into the oviducr and promote ovary development of the gonad
27
gynandromorphs and chromosomal sex determination
in flies sex of each cell is determined by the X:A ratio, so somatic nondisjunction can result in flies that are mosaic for male and female loss of an x chromosome
28
barr bodies
inactivated X chromosome against the nuclear envelope XXY males have a barr body XXX females have two barr bodies
29
Barr body formation is _________ process, inactivating either the ______ or _______ X
Random, maternal, paternal The result in the adult is a mosaic of tissues - adult is patchy can have phenotypic consequences
30
androgen insensitivity syndrome
the primary determinant of sex (testis determing factor on the y chromosome) Development of the rest of the body depends strongly on systemic hormones Example: express female externally but internally they lack the mullerian duct derivatives and have undesended testes
31
turner syndrome females
only have 1 X chromosome result of nondiscjunction most die in embryonic development but the ones that survive live normal lives common problems include decreased fertility, high miscarriage rate
32
Klinefelter syndrome males
XXY result of nondisjunction underdeveloped testes some degree of breast development
33
y-linked traits
"holandric" inheritance every son of an affected male will show the trait females should never show the trait
34
Eu Aneu nulli
True Not true no
35
Euploid
normal diploid state (2N)
36
aneuploidy
not normal missing 1 or more chromosomes nullisomic (2N-2) monosomic (2N-1) doubly monosomic (2N - 1 - 1) trisomic (2N+1) tetrasomic (2N + 2) doubly tetrasomic (2N + 2 + 2)
37
monoploidy
only one set of chromosomes (N)
38
Polyploidy
more than the normal number sets of chromosomes
39
allopolyploidy
sets from different species-hybridization
40
autopolyploidy
addition of extra chromosomes from the same species
41
types of diseases that happen when there is extra number of chromosomes
trisomy 21: down syndrome trisomy 13: pata u syndrome trisomy 18: edwards syndrome
42
deletion
loss of a part or all of a chromosome
43
duplication
doubling of part or all of a chromosome
44
inversion
break and repair that results in flippin garound part of a chromosome
45
translocation
putting a piece of chromosome somewhere it is not normally found
46
Cri-du-chat syndrome
partial monosomy due to a major deletion on 5p
47
angelman or prader-willi syndrome
chromosome 15q deletion
48
Dicentric bridge
caused by an attempt to segregate, will fragment
49
acentric bridge
portion that does not have a centromere and could be lost
50
example of deletion
ABCDE centromere FGH ABCE centromere FGH
51
examples of duplication
ABCDE centromere FGH ABCBCDE centromere FGH tandem ABCCBDE centromere FGH reverse tandem ABABCDE centromere FGH terminal tandem
52
examples of inversions
ABCDE centromere FGH ADCBE centromere FGH paracentric inversion ABCF centromere EDGH pericentric inversion
53
examples of translocations
ABCDE centromere FGH ADE centromere FBCGH nonreciprocal intrachromosomal translocation if two ABCDE centromere FGH and MNOPQ centromere R ADE centromere FGH and MNBCOPQ centromere R nonreciprocal interchromosomal translocation MNOCDE centromere FGH and ABPQ centromere R recirpocal interchromosomal translocation
54
translocations between chr 9 and chr 22 causes
a chromosome called the "phiadelphia chromosome" the gene fusion makes the ABL protien function to be constitutively active and makes it an oncogene oncogenes promote tumor development 90% if chronic myelogenous leukemia patients
55
robertsonian translocation
caused by a reciprocal translocation typically joins the long arm of chr 21 with the long arm of chr 14 or chr 15 carrier is normall but meiotic segregation products can form an embryo with 3 copies of 21q leading to the down syndrome phenotype
56
fragile sites
areas where the chromosome are prone to breakage during replication stress