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遗传咨询师考试题库终极版
基因变异
Somatic cell genetic defects can not be transmitted to the next
generation.对
According to current researches, Single nucleotide variants (SNV)
and Insertion–deletion variants (indels) are easier to be interpreted
than other types of variants.对
Variants in introns don’t affect the transcription regulation process.
错
In some genes, there are mutation hotspots which may contribute a
lot to the disease pathogenicity.对
Non-homologous equal crossover yields fusion genes.错
PART II: FILL IN THE BLANKS.
6. Human genetic variants can be classified into five
categories.Apart from Insertion–deletion variants (indels), Block
substitutions, and Inversion variants, what are the rest two
categories? single nucleotide variants and copy number variants
7. Effects of disease-causing mutations on function of gene product
include four aspects, which are discribed as follows: loss of function,
gain of function, acquisition of novel property, and abnormal
expression: heterochronic or ectopic. Among them, the majority of
the cause of pathology is loss of function
Strand slippage can be caused by ( ) and results in insertions and
deletions. simple sequence repeats
9. Splicing processes affected by mutations in introns which happen
in the receptor sites or donor sites bring about intron retention,
exon skipping and ( ) activation of cryptic splice sites
10.( )mutations in exon coding sequences always create truncated
proteins which may have a prior tendency to result in abnomal
protein function. Nonsense
致病基因的识别
填空题
Alleles of SNPs that are close together tending to be inherited
together can be called as (haplotype)
Transgenic animals can be set for modelling diseases and
understanding of (gene function )
多选题
3.The 3 Generation Human Genetic Markers used for linkage
analysis can be listed are follows, please sort them in chronological
order:
Restriction Fragment Length Polymorphism (RFLP),
Microsatellite Markers (CA Repeats),Sing
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