MIDTERM REVIEW

Question 1

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

Answer 1

splicing, polyadenylation, and capping

Question 2

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

Answer 2

chromatin

Question 3

mitosis and meiosis results in the following chromosome complements respectively

Answer 3

2n, n

Question 4

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

Answer 4

False

Question 5

an allele is:

Answer 5

different version of same varient

Question 6

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

Answer 6

promoters and enhancers

Question 7

Which of the following are composed of repetitive DNA elements?

Answer 7

centromere, line elements, and telomeres

Question 8

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

Answer 8

the nucleotide changes turn a coding codon into a STOP codon

Question 9

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

Answer 9

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

Question 10

Gene families can arise by which of the following mechanisms?

Answer 10

gene duplication

Question 11

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

Answer 11

methionine

Question 12

The arms of a chromosome are designated:

Answer 12

p and q

Question 13

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

Answer 13

Guanine= cytosine, adenine=thymine

Question 14

An important and distinct feature of meiosis is:

Answer 14

recombination

Question 15

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?

Answer 15

75%

Question 16

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:

Answer 16

False

Question 17

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

Answer 17

one dominant allele and one recessive allele

Question 18

Genetic anticipation is associated with:

Answer 18

Trinucleotide repeat instability

Question 19

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

Answer 19

25%

Question 20

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

Answer 20

A

Question 21

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

Answer 21

0%

Question 22

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

Answer 22

haplotype

Question 23

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

Answer 23

trisomy 13, 18, 21

Question 24

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

Answer 24

Types A,AB, B, or O

Question 25

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

Answer 25

loss of function

Question 26

Which of the following are true about mitochondrial inheritance?

Answer 26

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

Question 27

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

Answer 27

proband

Question 28

Which of the following is not a chromosome mutation?

Answer 28

aneuploidy

Question 29

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

Answer 29

FALSE (actually 50%)

Question 30

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

Answer 30

environment

Question 31

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)?

Answer 31

0.3; 0.42

Question 32

Characteristics of Inheritance of Complex disease is as following except:

Answer 32

TEND to be Mendelian inheritance

Question 33

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

Answer 33

TRUE

Question 34

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?

Answer 34

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

Question 35

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

Answer 35

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

Question 36

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

Answer 36

TRUE

Question 37

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

Answer 37

ANY OF THE ABOVE

Question 38

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

Answer 38

allele frequency

Question 39

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?

Answer 39

0.70

Question 40

what are the 3 approaches of discovering genes

Answer 40

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

Question 41

linkage analysis is used to

Answer 41

test for consistent repeated coinheritance of the disease with genomic region

Question 42

population based association analysis will look for

Answer 42

increased or decreased frequency of particular allele or set of alleles

Question 43

when does recombination happen

Answer 43

in meiosis 1

Question 44

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

Answer 44

false

Question 45

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

Answer 45

True

Question 46

what is definition of phase

Answer 46

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

Question 47

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

Answer 47

haplotype

Question 48

linkage definition

Answer 48

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

Question 49

recombination factor of 1% translate to

Answer 49

linkage map distance of 1 centimorgan

Question 50

markers far enough apart

Answer 50

one recombination will always occur, recombination frequency equal 50%

Question 51

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

Answer 51

strong linkage disequilibrium

Question 52

disease containing haplotype is influenced by

Answer 52

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

Question 53

D' close to 1 is; D' close to 0 is

Answer 53

strong LD; weak LD

Question 54

more generations/ long history means

Answer 54

small LD blocks

Question 55

less generations/ short history

Answer 55

large LD blocks

Question 56

LOD score >3 shows

Answer 56

strong evidence for linkage

Question 57

LOD score is

Answer 57

recombination frequency between a marker and trait locus