短串联重复序列D7S2201基因座的群体遗传学研究

用扩增片段长度多态性技术分析短串联重复序列D7S2201基因座的遗传多态性,在262个中国成都地区汉族无关个体及119个泰国曼谷地区泰人无关个体中分别发现7个和5个等位基因,首次获得该基因座在两群体中的频率分布,其等位基因片段大小范围为100～124bp。两群体的基因型频率分布均符合Hardy Weinberg平衡。该基因座在两群体中的个人识别能力（PD）、杂合度（H）、多态性信息含量（CPI）及非父排除率（PE）分别为0.7038、0.5992、0.4789、0.2900和0.7351、0.5882、0.5012、0.2770。家系调查证实了等位基因的传递遵循孟德尔遗传规律。χ2检验表明两群体间等位基因频率分布无显著性差异。 Abstract：The polymorphism of a new short tandem repeat (STR) locus D7S2201 was analyzed by using AmpFLP. Seven alleles were observed in 262 unrelated Chinese individuals living in Chengdu and five alleles in 119 unrelated Thai individuals living in Bangkok, the ranges of fragment size were 100～124bp. The genotypes distributions of D7S2201 locus in the two populations were in accordance with Hardy Weinberg equilibrium. The discriminating power (PD), observed heterozygosity (H), polymorphism information content (CPI) and power of exclusion (PE) were 0.7038, 05992, 04789, 02900 in Chinese population and 0.7351, 0.5882, 0.5012, 0.2770 in Thai population respectively. Family studies confirmed Mendelian inheritance of alleles. No significant difference was observed between the two populations.     

银染法检测STR复合扩增产物应用于法医个体识别的初步研究

为提高法医生物检材利用率和检案效率,研制银染法能检测的4个基因座和6个基因座STR复合扩增试剂。对一例轮奸案检材DNA,运用同步复合PCR技术对CSF1PO、TPOX、THO1和vWA(A组)4个STR基因座;D18S51、D7S820、D13S317、D5S818、D3S1358 5个STR基因座和Amelogenin(B组)性别基因座分别进行4个基因座和6个基因座的PCR复合扩增,两组扩增产物同时经测序聚丙烯酰胺凝胶电泳和银染检测,扩增片段互不干扰。两组试剂用于一例个体识别案获得了2.43×10-19的个体识别率。证实了银染法检测STR 4个基因座和6个基因座复合扩增产物的可行性。 Abstract:Amplification of short tandem repeat(STR) loci has become a useful tool for human identification applicationsTo improve throughput and efficiency for the forensic materials and gain foure and six STR locis multiplex methods with silver staining,CSF1PO、TPOX、THO1 and vWA(referred to as multiplex A), D18S51、D7S820、D13S317、D5S818、D3S1358 and Amelogenin(referred to as multiplex B) have been evaluated for use in a rape case.The products of multiplex amplication were separated in a denaturing polyacrylamide gel and analyzed with silver staining.Two multiplex amplications used in this case could provide a power of discrimination of approximately 2.43×10-19.Silver staining was showen to be a validation methods for analysing the products of four and six multiplex amplications.     

西藏地区藏族群体α1-抗胰蛋白酶的遗传多态性及一种新的Pi变异型

作者用超薄层聚丙烯酰胺凝胶等电聚焦技术,调查了204名西茂地区无血缘关系藏族个体血清α1-抗胰蛋白酶（Pi）的表型,除检出6种常见PiM亚型外,还检出了4种变异型。其中,1种是国内外尚未见报道的新的Pi变异型,1种是缺陷型,其血清Pi相对含量为69.51%。推算出Pi等位基因频率为：PiM1=0.7624,PIM2=0.1634,PiM3=0.0668和PiV=0.0074。 The distribution of subtypes and gene frequencies ofα1-antitrypsin were studied in 204 unrelated healthy blood donors in Tibetan population in Tibet using ULPAGIF.Besides six common PiM subtypes,four kinds of Pi variants were detected.They were as follows:PiM1/L,R,M1-and a new variant.The relative concentration of M1-was 69.51%.The gene frequencies of Pi alleles were PiM1=0.7624,PiM2=0.1634,PiM3= 0.0668,PiV=0.0074.