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Human Genetics And Medical Genomics > MIDTERM REVIEW > Flashcards

MIDTERM REVIEW Flashcards

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USMLE® Step 1 flashcards Biology 101 flashcards
1
Q

which of the following steps must primary RNA transcript undergo before it is mature mRNA

A

splicing, polyadenylation, and capping

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2
Q

DNA is associated with several classes of proteins and packaged into complexes known as

A

chromatin

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3
Q

mitosis and meiosis results in the following chromosome complements respectively

A

2n, n

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4
Q

T or F: a promoter is a sequence where DNA replication is initiated

A

False

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5
Q

an allele is:

A

different version of same varient

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6
Q

what types of sequences are located in 5’ region of human genes

A

promoters and enhancers

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7
Q

Which of the following are composed of repetitive DNA elements?

A

centromere, line elements, and telomeres

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8
Q

For the nonsense variants, which of the following is correct:

A

the nucleotide changes turn a coding codon into a STOP codon

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9
Q

Which of the following is correct? The enzyme peptide transferase is involved in:

A

protein translation; acts during protein translation to attach the next amino acid to the growing peptide chain

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10
Q

Gene families can arise by which of the following mechanisms?

A

gene duplication

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11
Q

Translation is always initiated at a codon for which amino acid?

A

methionine

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12
Q

The arms of a chromosome are designated:

A

p and q

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13
Q

Which of the following represents the pairing of nucleotide bases in DNA?

A

Guanine= cytosine, adenine=thymine

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14
Q

An important and distinct feature of meiosis is:

A

recombination

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15
Q

For an autosomal dominant disease, if two affected parents (both are heterozygous) have a child, what is most likely the risk of passing on the disorder?

A

75%

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16
Q

T or F: A girl with 49, XXXXX karyotype with chromosome disorder has 2 X chromosomes which are active and 3 X chromosomes which are inactive:

A

False

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17
Q

What does the notation Tt or T/t mean to geneticists?

A

one dominant allele and one recessive allele

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18
Q

Genetic anticipation is associated with:

A

Trinucleotide repeat instability

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19
Q

When a set of parents has a child affected by an autosomal recessive disorder, the most likely recurrence risk is:

A

25%

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20
Q

A person who inherits the A and the O blood type alleles will posses which blood type?

A

A

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21
Q

What is the risk for hemophilia A (x linked recessive) in the grandsons if their paternal grandfather is a hemophiliac?

A

0%

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22
Q

which of the following terms refers to a set of alleles that is inherited together on a chromosome?

A

haplotype

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23
Q

What are the 3 trisomies for complete autosomes that are well defined and compatible with postnatal survival?

A

trisomy 13, 18, 21

24
Q

A person with the blood type AB likely could safely receive a transfusion of a pint of which of the following blood types?

A

Types A,AB, B, or O

25
Q

Most traits that exhibit an autosomal recessive pattern of inheritance are the result of what type of mutation?

A

loss of function

26
Q

Which of the following are true about mitochondrial inheritance?

A

(there is heteroplasty, mitochondria segregate randomly as cells divide, maternally inherited, approx. 1000 mitochondrial DNA (mtDNA) molecules per cell)

27
Q

What is the term used to describe the patient who first brings a family to a geneticist’s attention?

A

proband

28
Q

Which of the following is not a chromosome mutation?

A

aneuploidy

29
Q

Siblings (including dizygotic twins) have 75% of their alleles in common with their other siblings, but this is only on average

A

FALSE (actually 50%)

30
Q

Twin studies are used as a way to separate genetic effects from confounding by which of the following factors?

A

environment

31
Q

A autosomal recessive inheritance occurred in a village about 1 per 900 in this population. If disease causing alleles together, we treat them as a single allele with frequency q, then (1) what the allele frequency …….. of affected what is carrier frequency ……… (what percentage for the people from this village being carrier)?

A

0.3; 0.42

32
Q

Characteristics of Inheritance of Complex disease is as following except:

A

TEND to be Mendelian inheritance

33
Q

Monozygotic twins share their 100% alleles, dizygotic twins shares their 50% alleles at any locus

A

TRUE

34
Q

Following pedigree, a father carries A/T genotype, mom carries C/G genotypes, what possible sharing alleles of 1,2, or 0 between two siblings?

A

25% for sharing 2 alleles, 50 sharing 1 allele, 25% for sharing 0 alleles

35
Q

Above pedigree, a father carries A/T genotype, mom carries C/G genotypes, what possible genotypes their children may carry?

A

A/C, A/G, T/C, T/G

36
Q

In a parent offspring pairs: a child has 50% of alleles in common with each parent at each locus in the human genome

A

TRUE

37
Q

High blood pressure can be considered as which type of trait in a genetic study

A

ANY OF THE ABOVE

38
Q

The Hardy Weinberg law related genotype frequencies with which of the following?

A

allele frequency

39
Q

In a human population, the genotype frequencies at one locus are 0.5AA, 0.4 Aa, and 0.1 aa. What is the frequency of the A allele?

A

0.70

40
Q

what are the 3 approaches of discovering genes

A

linkage analysis, population based association analysis, and direct genome sequecning

41
Q

linkage analysis is used to

A

test for consistent repeated coinheritance of the disease with genomic region

42
Q

population based association analysis will look for

A

increased or decreased frequency of particular allele or set of alleles

43
Q

when does recombination happen

A

in meiosis 1

44
Q

T/F: each chromosome by a child is exactly the same as chromosome in parents

A

false

45
Q

T/F: the closer two loci are on same chromosome the more likely recombination will happen

A

True

46
Q

what is definition of phase

A

individual is heterozygous at two loci, allele of first locus on same chromosome with which allele at second locus

47
Q

set of alleles on same homologue as coupling at same chromosome is

A

haplotype

48
Q

linkage definition

A

tendency for alleles at loci close together on same chromosome to be tranmissted together through meiosis or deviation from independent assortment

49
Q

recombination factor of 1% translate to

A

linkage map distance of 1 centimorgan

50
Q

markers far enough apart

A

one recombination will always occur, recombination frequency equal 50%

51
Q

if two loci located close together what does this say about linkage disequilibirum

A

strong linkage disequilibrium

52
Q

disease containing haplotype is influenced by

A

of generations, frequency of recombination at loci, and positive or negative selection

53
Q

D’ close to 1 is; D’ close to 0 is

A

strong LD; weak LD

54
Q

more generations/ long history means

A

small LD blocks

55
Q

less generations/ short history

A

large LD blocks

56
Q

LOD score >3 shows

A

strong evidence for linkage

57
Q

LOD score is

A

recombination frequency between a marker and trait locus

Human Genetics And Medical Genomics (8 decks)

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