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
D. Balanced reciprocal translocation
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
C. Non-homologous End Joining (NHEJ)
How is it called with a male has a X mutant of an X linked recessive inheritance disorder
Hemizygous
Which of the following does NOT lead to LOSS of genetic material
a. Robertsonian translocation
b Balanced reciprocal translocation
c. Deletion
d. Ring chromosomes
b. Balanced reciprocal translocation
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
d. Frameshift mutations
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
b. Females with X-linked mutant genes are described as hemizygous
What is the mechanism for genomic imprinting?
a. Translocation
b. Point mutation
c. Paracentric inversion
d. Epigenetic modification
d. Epigenetic modification
Which of the following molecules does NOT play a role in homologous recombination
a. ATM1
b. ATM2
b. BRCA1
d. PARP1
d. PARP1 (base excision repair)
Which of the following does NOT lead to LOSS of genetic material
a. Robertsonian translocation
b. Balanced reciprocal translocation
c. Deletion
d. Ring chromosomes
b. Balanced reciprocal translocation
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
d. Frameshift mutations
How is it called when a single mutant gene lead to many end effects
a. Codominance
b. Pleiotropism
c. Genetic heterogenicity
d. Incomplete penetrance
b. Pleiotropism
Which of the followings entities is NOT a type of aneuplody
a. Monosomy
b. Trisomy
c. Mosaicism
d. Pleiotropism
d. Pleiotropism
Best diagnostic technique to detect unknown genomic abnormalities
a. FISH
b. PCR
C. Western blot
d. Cytogenomic array
d. Cytogenomic array
(SNP polymorphism genotipying)