問題一覧
1
The result of non disjunction in meiosis1
half of the gamers will have n-1 chromosomes
2
Which disease is linked to the X chromosome aneuploidy?
Turner syndrome
3
Structural chromosomal abnormalities are characterized by
Meiotic pairing of rearranged chromosomes is of the abnormal
4
Repeats that range in size from about one kb to several mb
CNV
5
What is the average difference bw 2 human genomes?
0.5%
6
What kind of chromosomal abnormality can cause Turner syndrome?
all of them
7
Not induced mutation
mutation that occurs during spontaneous cell division
8
True about loss of function mutation
usually show recessive inheritance
9
Classic definition of mutation
sudden change in the heritable DNA
10
Which one is NOT a length mutation?
SNP
11
Which of the following karyotypes is most likely to be found in normal human sperm?
23,X
12
All of the following karyotypes are found in spontaneous abortuses. Which is least likely to be bound in a live born infant?
46, XX 16
13
In X chromosome inactivation, all of X chromosome genes are inactivated.
False
14
What disease is caused by a mutation in ATM gene
Ataxia telangiectasia
15
182.Which one is NOT a length mutation?
Reciprocal translocation
16
Where is DNA methylation most often in the gene?
in CG
17
What can be a reason behind autoimmune disease being more prevalent in women?
X inactivation
18
True for CpG dinucleotides
The methylation in pro,other region provides a basic regulation of gene expression
19
An enzyme that adds a methyl group to a substrate
methyltransferase
20
DNA methylation
it refers the methylation of cytosine base by the DNA methyl transferase
21
Methylation within coding region of gene causes
less off target initiations from that gene
22
miRNA in mammals mostly acts by
cleaving target mRNA
23
A frameshift mutation has more serious consequences than a point mutation
Causesallofthecodonsafterittobedifferent
24
mitochondrial disease
heteroplasmy
25
The short arm of Acrocentric chromosomes consist mainly of a satellite and thin stalk, containing multiple copies of genes encoding ribosomal RNAs.
true
26
Repeat core sequences consisting of 2,3,4 base pairs in one pseudogene are known as
microsatellites
27
Which molecule plays a role in spermatogenesis in transposons silencing?
piRNA
28
These are molecular mechanisms that mediate epigenetic phenomena, EXCEPT:
deamination
29
An interstitial deletion of paternal chromosome subregion 15q11-q13 results Prader-Willi syndrome (PWS). The deletion of the same subregion of maternal chromosome results another disease Angelman syndrome.
imptinting
30
mutation in SMA
deletion of exon7