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)，Single Nucleotide Polymorphism (SNP) and Haplotype
Single Nucleotide Polymorphism (SNP) and Haplotype，Microsatellite Markers (CA Repeats)，Restriction Fragment Length Polymorphism (RFLP)
Microsatellite Markers (CA Repeats)，Restriction Fragment Length Polymorphism (RFLP)，Single Nucleotide Polymorphism (SNP) and Haplotype
Single Nucleotide Polymorphism (SNP) and Haplotype，
Restriction Fragment Length Polymorphism (RFLP)， Microsatellite Markers (CA Repeats)
4.Positional cloning is a method to clone a gene based simply on knowing its position in the genome by linkage analysis without any idea of the function of that gene. We can carry out positional cloning by 3 steps, which can be listed in chronological order are follows.
Fine mapping，Disease mapping， Candidate genes
Fine mapping， Candidate genes，Disease mapping
Candidate genes，Disease mapping，Fine mapping
Disease mapping,Fine mapping， Candidate genes 窗体底端
5.Mutation screening strategy includes ( )
RT-PCRchip
6.Research and clinical testing of inherited monogenic diseases such as LCA can be carried out by ( )
Single gene testing
Targeted sequence captured panel
SSCP / Heteroduplex / dHPLC
Sequencing / DNA
Whole exome sequencingWhole genome sequencing
是非题
7.Families collection, linkage analysis and functional study of a gene are all important for position dependent candidate cloning and the identification of a candidate gene.
true
false
8.aCGH (Array Comparative Genomic Hybridization) is a method of testing for SNP (Single Nucleotide Variation).
true
false
9.The Genome Wide Association approach (GWAS) is a method based on the whole genome which can be applied mainly for polygenic disease. Researchers have identified a great many of susceptibility genes that may contribute to disease predisposition by GWAS.
true
false
10.The identification of disease causative mutations can be largely assisted by the reference for related databases such as Online Mendelian Inheritance in Man (OMIM), Human Gene Mutation Database (HGMD),etc.
true
false
遗传病的分子机理 填空题
DNA sequence that is homologous with a known gene but non-functional can be called as a (pseudogene ).
A group of adjacent genes that are identical or related can be called as a (gene cluster). 选择题
3.The effects of gene mutations on protein function include:
A.Loss of protein function
B.Gain of protein function
C.Novel property aquirement D.Heterochronic or Ectopic
expression or both
4.Which type of human globin genes DOESN’T express during prenatal period?
A.α
B.β
C.γ
D.ξ
5.A individual who carries the β0 /β0 genotype will present a phenotype called:
A．Sickle cell anemiathalassemia trait
B．Hb Bart’s syndrome
C．β-
D．β-thalassemia major
6.Diseases can be due to mutations in the following different classes of proteins:
A.Transport and storage
B.Structure of cells and organs
C.Extracellular homeostasis expression
D.Developmental gene
E.Control of growth and differentiation
F.Intercellular metabolism and communication