Chap 8 Genetics Flashcards

(13 cards)

1
Q

Which structural chromosome abnormality involves a single break in each chromosome involved in the event?”
A. inversion.
B. ring chromosome formation
C. interstitial deletion
D. Balanced reciprocal translocation

A

D. Balanced reciprocal translocation

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2
Q

DNA ligase IV is involved in which DNA repair process?
A. Homologous recombination (HR)
B. Base excision repair (BER)
C. Non-homologous End Joining (NHEJ)
D. Mismatch repair

A

C. Non-homologous End Joining (NHEJ)

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3
Q

How is it called with a male has a X mutant of an X linked recessive inheritance disorder

A

Hemizygous

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4
Q

Which of the following does NOT lead to LOSS of genetic material
a. Robertsonian translocation
b Balanced reciprocal translocation
c. Deletion
d. Ring chromosomes

A

b. Balanced reciprocal translocation

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5
Q

Deletions or insertions of small groups of nucleotides within a DNA coding sequence are called
a. Point mutations
b Missense mutations
c. Chromosome mutations
d. Frameshift mutations

A

d. Frameshift mutations

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6
Q

All of the following are characteristic of X-linked disorders EXCEPT:
a. Daughters of affected males are carriers of the defect
b. Females with X-linked mutant genes are described as hemizygous
c. Heterozygous females often partially express the defect
d. Most X-linked disorders are recessive
e. Sons of heterozygous females have a one in two chance of receiving the mutant gene

A

b. Females with X-linked mutant genes are described as hemizygous

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7
Q

What is the mechanism for genomic imprinting?
a. Translocation
b. Point mutation
c. Paracentric inversion
d. Epigenetic modification

A

d. Epigenetic modification

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8
Q

Which of the following molecules does NOT play a role in homologous recombination
a. ATM1
b. ATM2
b. BRCA1
d. PARP1

A

d. PARP1 (base excision repair)

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9
Q

Which of the following does NOT lead to LOSS of genetic material
a. Robertsonian translocation
b. Balanced reciprocal translocation
c. Deletion
d. Ring chromosomes

A

b. Balanced reciprocal translocation

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10
Q

Deletions or insertions of small groups of nucleotides within a DNA coding sequence are called
a. Point mutations
b. Missense mutations
c. Chromosome mutations
d. Frameshift mutations

A

d. Frameshift mutations

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11
Q

How is it called when a single mutant gene lead to many end effects
a. Codominance
b. Pleiotropism
c. Genetic heterogenicity
d. Incomplete penetrance

A

b. Pleiotropism

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12
Q

Which of the followings entities is NOT a type of aneuplody
a. Monosomy
b. Trisomy
c. Mosaicism
d. Pleiotropism

A

d. Pleiotropism

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13
Q

Best diagnostic technique to detect unknown genomic abnormalities
a. FISH
b. PCR
C. Western blot
d. Cytogenomic array

A

d. Cytogenomic array
(SNP polymorphism genotipying)

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