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宁夏回族人群X染色体10个短串联重复序列位点的遗传多态性调查 被引量:12

An investigation for genetic polymorphisms of 10 STR loci on chromosome X of Chinese Hui nationality population in Ningxia region of China
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摘要 目的研究宁夏回族群体X染色体上的10个短串联重复序列(DXS101、DXS6789、DXS6799、DXS6804、DXS7130、DXS7132、DXS7133、DXS7423、HPRTB、DXS8378)的基因及基因型频率分布。方法随机抽取100名宁夏回族无关个体静脉血,提取DNA,PCR扩增,变性聚丙烯酰胺凝胶电泳,银染检测结果。结果DXS101、DXS6789、DXS6799、DXS6804、DXS7130、DXS7132、DXS7133、DXS7423、HPRTB、DXS8378分别检出9、8、4、6、6、6、4、4、5和5种等位基因;分别检出17、22、7、14、14、15、6、7、12和8种基因型;基因频率分别分布在0.0087~0.3130、0.0087~0.2696、0.0348~0.5826、0.0087~0.3044、0.0261~0.4348、0.0261~0.3217、0.0261~0.6783、0.0087~0.4870、0.0261~0.4783、0.0087~0.4870之间;此10个位点女性的基因型频率分布均符合Hardy Weinberg平衡,多态信息量除DXS7133和DXS7423外均大于0.50;女性个体识别率从0.89(DXS7133,DXS7423)至0.99(DXS101,DXS6789,DXS7132)。结论这10个X染色体短串联重复序列位点有较高的个体识别率,在个体识别和女孩亲权鉴定中有较高应用价值,对疾病相关研究有重要意义。 Objective To investigate the alleles and genotypes frequency of 10 short tandem repeat (SIR) loci (DXS101,DXS6789,DXS6799,DXS6804,DXS7130, DXS7132,DXS7133, DXS7423, HPRTB, DXS8378)on X chromosome of Chinese Hui nationality population. Methods The study of 10 STR loci was performed by using the techniques of PCR, polyacylamide gel electrophoresis and silver staining. Results Among unrelated Hui individuals, the allele numbers of 10 STIR loci DXS101, DXS6789,DXS6799,DXS6804,DXS7130, DXS7132,DXS7133, DXS7423, HPRTB, DXS8378 were 9,8,4,6,6,6,4,4,5 or 5 respectively; the numbers of genotypes were 17,22,7,14,14,15,6,7,12 or 8 respectively. The distribution of genotypes from these 10 STR systems fitted the Hardy-Weinimrg equilibrium ( P 〉 0.05). Polymorphisms information content of 10 STR loci, except for DXS7133 (0.48) and DXS7423 (0.48), ranged from 0.54(DXS6799) to 0.80 (DXS6789) ; the power of discrimination were from 0.89 (DXS7133, DXS7423) to 0.99 (DXS6789, DXS7132, DXS101). Conclusion The loci of 10 STR on chromosome X are appropriate for individual identification, paternity testing involving a female child and for study on related disease.
出处 《中华医学遗传学杂志》 CAS CSCD 北大核心 2006年第3期346-348,共3页 Chinese Journal of Medical Genetics
关键词 X染色体 短串联重复 遗传多态性 X chromosome short tandem repeat genetic polymorphism
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参考文献10

  • 1Edelmann J,Deichsel D,Hering S,et al.Sequence variation and allele nomenclature for the X-linked STRs DXS9895,DXS8378,DXS7132,DXS6800,DXS7133,GATA172D05,DXS7423 and DXS8377.Forensic Sci Int,2002,129:99-103.
  • 2Edelmann J,Szibor R.The X-linked STRs DXS7130 and DXS6893.Forensic Sci Int,2003,136:73-75.
  • 3Matsushita H,Nakamura S,Nagai T,et al.Genetic analysis of 18 STR loci on the X chromosome in a Japanese population.International Congress Series,2003,1239:331-333.
  • 4Edelmann J,Hering S,Kuhlish E,et al.Validation of the X chromosome STR DXS7424 which is closely linked to DXS101.International Congress Series,2003,1239:393-398.
  • 5吕德坚.用复合PCR检测DXS7132和DXS6804的单倍型(英文)[J].Acta Genetica Sinica,2003,30(1):10-14. 被引量:16
  • 6Nei M,Roychoudhury AK.Sampling variances of heterozygosity and genetic distance.Genetics,1974,76:379-390.
  • 7Botstein D,White RI,Skolnich M,et al.Construction of a genetic linkage map in man using restriction fragment length polymorphisms.Am J Hum Genet,1980,32:314-331.
  • 8Desmarais D,Zhong Y,Chakraborty R,et al.Development of a highly polymorphic STR marker for identity testing purposes at the human androgen receptor gene (HUMARA).J Forensic Sci,1998,43:1046-1049.
  • 9窦效伟,郭辰虹,陈丙玺,刘晓军,邹雅群,龚瑶琴.中国一个汉族人群X染色体四个位点的多态性分析[J].中华医学遗传学杂志,1998,15(2):92-94. 被引量:24
  • 10金洁,吴朝阳,刘木根,盛瑞兰,陆化,朱广荣,许文林.中国汉族人群DXS15位点多态性研究及其应用[J].复旦学报(医学版),2002,29(1):50-52. 被引量:22

二级参考文献21

  • 1吕宝忠.多态信息量(PIC)等于杂合度吗?[J].遗传,1994,16(4):31-33. 被引量:15
  • 2侯一平,苟清,吴梅筠.中国人COL2A1基因座的扩增片段长度多态性[J].Acta Genetica Sinica,1995,22(4):245-251. 被引量:1
  • 3冯亚雄,生命的化学,1982年,2期,61页
  • 4Gitschier J,Wood WI,Goralka TM, et al. Characterization of human factor Ⅷ gene. Nature, 1984,312: 326
  • 5Pemberton S, Lindley P,Zaitsev V, et al. A molecular model for the triplicated a domains of human factor Ⅷ based on the crystal structure of human ceruloplasmin. Blood, 1997,89 (7): 2413
  • 6Pieneman WC, Deutz-Terlouco PP, Reitsma PH, et al.,Scre n for mutations in hemophilia A pations by multiplex PCR-SSCP, Southen blotting and RNA analysis: the detection of a genetic abnormality in the factor Ⅷ gene in 30 out of 35 pations. British Journl of Haematology, 1995,90: 442
  • 7Dib C, Faure S,Fizames C, et al. A comprehesive senetic map of the human genome based on 5264 microsatellites. Nature, 1996,38:132
  • 8Hammond H A,Jin L,Zhong Y,Caskey CT,Chakraborty R.Evaluation of 13 short tandem repeat loci for use in personalidentification applications.Am J Hum Genet,1994,55(1):175~189.
  • 9Kishida T,Tamaki Y.Determination of sibship by microsatellite typing in adeficiency case of disputed maternity:further study.Nippon Hoigaku Zasshi,1997,51(6):430~432.
  • 10Desmarais D,Zhong Y,Chakraborty R,Perreault C,Busque L.Development of a highlypolymorphic STR marker for identity testing purposes at the human androgen receptor gene(HUMARA).J Forensic Sci,1998,43(5):1046~1049.

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