Genetics 3 Flashcards

1
Q

Duchenne and Becker Muscular Dystrophy are both caused by mutations in

A

n the dystrophin gene (allelic heterogeneity)

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

epigenetic mutations are transmitted in somatic cells but reversible in

A

gametogenesis

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

Phenotypic expression for both Mendelian and non-Mendelian disorders will always be

A

dependent on the interaction between the genes involved and the environment

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

In a GWAS, linkage disequilibrium as defined above means that knowing one SNP can allow you to cover up to

A

20k basepairs

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

allows even division of cells during mitosis

A

cleavage furrow

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

carriers of this chromosome abnormality are not at increased risk for having abnormal children

A

paracentric inversions

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

are duplications generally more severe than deletions

A

no

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

majority of miscarriages are due to what anomoly

A

chromosomal disorders

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

In turner syndrome, there are no

A

barr bodies

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

imprinting disorders are ____ compared with AR conditions

A

rare

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

what causes thymidine dimers?

A

UV light

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

must all eukaryotic genes be spliced?

A

no

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

what at the branch point within the intron attacks the 5’ end of the intron to form lariat

A

adenine neucleotide

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

ribosomes are encoded on the

A

p arm of acrocentric chromosome

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

diagnose microdeletions like Angelman, PGD, rapid prenatal diagnosis of sex, Down syndrom, and amplification of cancer genes

A

FISH

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

SINEs and LINEs, repetitive elements

A

what genomes are mostly composed of

17
Q

both due to mutations of the 16th amino acidd of beta globulin

A

HbS and HbC

18
Q

patients with beta thalassemia have no symptoms at birth because

A

they have mostly fetal hemoglobin!

19
Q

carriers for beta thalassemia have increased percentage of HbA2 because

A

delta globin replaces beta globin

20
Q

are inborn errors of mitochondrial respiratory chain always maternally inherited?

A

No. (de novo?)

21
Q

Does ubiquination of MPF mediate cell cycle progression?

A

No.

22
Q

Does ubiquination and degradation of Cdks regulate them?

A

No.

23
Q

DNA fingerprints capitalize on variability in

A

number of tandem repeats in noncoding DNA

24
Q

motor mediated sliding of polar Mts away from eachother

A

drives elogation of spindle apparatus

25
Q

RNA polymerase II involved in

A

splicing of primary transcripts

26
Q

peptidyl tranferase involved in

A

elogation reaction in protein synthesis

27
Q

How many VNTRs to determine paternity?

A

ten to sixteen

28
Q

what is used to separate VNTRs in paternity tests?

A

gel electrophoresis

29
Q

WhichAPOE alleles would lead most likely to Alzheimers?

A

2 E4 alleles

30
Q

where do oocysts arrest following ovulation?

A

Metaphase II

31
Q

someforms of MODY

A

don’t require insulin

32
Q

replicate during interphase, act as MT organizing center, DON’T attach to actin filaments to make mitotic spindle

A

centrisomes

33
Q

have little histone content, highly condensed DNA

A

mature sperm

34
Q

is ability to treat the disease a criteria for carrier screening?

A

No.

35
Q

increase sensitivity means increased false

A

positives

36
Q

in familial hypercholesterolia, the defect is in

A

hepatocytes

37
Q

PKU, MODY, OI exhibit

A

locus heterogeneity (CF does not)

38
Q

CpG islands allow binding of

A

MBPs

39
Q

do mutations/chromosome abnormalities that effect imprinting ever upregulate gene expression?

A

No.