遗传学试题资料：Medical genetics

1、1.外显子与内含子接头序列为_。(6.0分)A.5 GT-AT 3B.5 GT-AG 3C.5 GG-AT 3D.5AG-GT 32.Which of the following statement about polymorphysim isnotcorrect?(6.0分)A.Mini satellites and Microsatellites are not the repeat DNA sequence in the human genome and both cannot be used as polymorphysim marker.B.RFLP is the 1st gener

2、ation of markers used in humansC. Single nucleotide polymorphisms (SNPs) occur about once every 500-1000 bp in thehuman genome.D.Restriction RFLP Mapping can be combined with Southern Blot Analysis to detect the difference sin DNA samples.3.The hypothetical Southern blot show below illustrates a DNA

3、 “fingerprinting” analysis to examine paternity, where maternal (M), child (C), and paternal (F) DNA samples have been restricted, blotted, and hybridized simultaneously to the probe D1S220 and D7S123. (DNA marker is the standard ladder). The distributions of restriction fragment alleles suggest(6.0

4、分) A.The child is adoptedB.False maternity (i.e. baby switched in the nursery)C.False paternityD.Correct maternity and paternityE.None of the above4.Gene is split, alternate with the exons and the introns.(6.0分)A.Introns are the non-encoding sequences and the corresponding RNA sequence will be remov

5、ed from mRNA. Their mutations do not influence the splicing of RNA and affect the production of mRNAB.Exons are the encoding sequences corresponding to the sequence of mRNA and their mutations will influence the formation of proteins.C.The numbers of exons and introns in a gene are N+1 and N respect

6、ively. Exons are variable and introns are conserved.D.Splice site is located in the junction region of intron and exon, where intron always starts at AT and ends at CG.（P30，A中情况只是一般的，也有例外。内含子GTAG）5.A nucleotide substitution cannot cause which of the following?(6.0分)A.nonsenseB.Frame shiftC.missenseD

7、.same sense6.If the sequence of nucleotides in a gene is T-T-A-C-G-A-G, the sequence of nucleotides in mRNA synthesized by it is(6.0分)A.T-T-A-C-G-A-GB.A-A-U-G-C-U-CC.A-A-T-G-C-T-CD.A-A-T-G-C-T-GE.T-T-U-G-C-U-G7.Meiosis 1 is known as the(6.0分)(减数分裂)A.reduction divisionB.diploid divisionC.sexual divis

8、ionD.equilibration division8.The hereditary characteristics are transmitted as units was discovered by(6.0分)A.MendelB.FlemingC.MorganD.Sutton9.Cross-over is a familiar term to(6.0分)A.HybridiztionB.Interchange of sections of chromatidsC.Migration across difficult geographical barriersD.Diffusion from

9、 one side of a membrane to the otherE.Pollination involving separate flowers, male and female10.The presence of genes in the same chromosome is an example of(6.0分)A.LinkageB.CoordinationC.Free assortmentD.SegregationsE.Fusion11.Which of the following diseases results from faulty DNA repair?(6.0分)A.n

10、eurofibromatosis type 1 NFTR1(神经纤维瘤I)B.retinoblastoma RB基因(肿瘤)C.xeroderma pigmentosum (着色性干皮病，缺乏切除修复功能或功能大大降低)D.osteogenesis imperfecta Col1A1(成骨发育不全)E.hemophilia （ 血友病凝血因子缺乏）12.在基因组的间隔序列和内含子等非编码区内，广泛存在着与小卫星DNA相似的一类小重复单位，重复序列为（），称为微卫星DNA或STR，如(A)n/(T)n、(CA)n/(TG)n、(CT)n、(AG)n等。(6.0分)A.15kbB.26kbC.10

11、60kbD.15100kbE.170300kb13.目前已知人类最大的基因，大约由（）和相应的内含子组成，cDNA全长为11 000bp，编码分子量为427 000的蛋白质，从dystrophin转录形成一条完整的mRNA分子需要16h。(7.0分)A.40个外显子B.60个外显子C.70个外显子D.80个外显子E.79个外显子（Duchenne Muscular Dystrophy gene: 79 exons, 2 300 000 bp)14.According to present thinking, which of the following statements about cod

12、ons is incorrect?(7.0分)A.The codon consisits of four nucleotidesB.The codon are nonoverlappingC.Two or more codons often code for the same amino acidD.There is evidence to support the theory that the cell reads the codons in sequence froma given pointE.Nucleotide sequence (genes) are probably separa

13、ted by spacers that are nonsense codons15.发病率最高的遗传病是（）(7.0分)A.多基因病B.单基因病C.染色体病D.体细胞遗传病16.Genetic diseases caused by which of the following types of mutation would be most amenable to replacement therapy with the relevant gene product(provided you could get it where it needed to go)?(7.0分) （遗传疾病引起的下列哪个类型的突变是最适合相用相关基因产物替代疗法）A.gene duplication基因复制B.dominat negative A mutant allele inhibits the function of the normal allele at the same cell在同一细胞，占主导地位的突变消极等位基因抑制正常等位基因的功能 显