遺傳學試題資料：Medical genetics

1、1.外顯子與內(nèi)含子接頭序列為_。(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中情況只是一般的，也有例外。內(nèi)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)(減數(shù)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(神經(jīng)纖維瘤I)B.retinoblastoma RB基因(腫瘤)C.xeroderma pigmentosum (著色性干皮病，缺乏切除修復功能或功能大大降低)D.osteogenesis imperfecta Col1A1(成骨發(fā)育不全)E.hemophilia （ 血友病凝血因子缺乏）12.在基因組的間隔序列和內(nèi)含子等非編碼區(qū)內(nèi)，廣泛存在著與小衛(wèi)星DNA相似的一類小重復單位，重復序列為（），稱為微衛(wèi)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.目前已知人類最大的基因，大約由（）和相應的內(nèi)含子組成，cDNA全長為11 000bp，編碼分子量為427 000的蛋白質，從dystrophin轉錄形成一條完整的mRNA分子需要16h。(7.0分)A.40個外顯子B.60個外顯子C.70個外顯子D.80個外顯子E.79個外顯子（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.發(fā)病率最高的遺傳病是（）(7.0分)A.多基因病B.單基因病C.染色體病D.體細胞遺傳病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) （遺傳疾病引起的下列哪個類型的突變是最適合相用相關基因產(chǎn)物替代療法）A.gene duplication基因復制B.dominat negative A mutant allele inhibits the function of the normal allele at the same cell在同一細胞，占主導地位的突變消極等位基因抑制正常等位基因的功能 顯