遗传咨询师考试题库终极版.pdf

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