中国人D13S26位点的多态性及其在Wilson''''s病家系中的连锁分析

D13S26位点位于13q21.1～q21.2,与Wilson病基因位点相距约3.8分摩(centimor-gan,cm).中国人D13S26位点的多态等位片段与白种人相同,但各等位片段的频率两者差异明显,中国人HphI酶切点的多态信息最高,杂合率约0.5。应用D13S26位点对3个Wilson病家系进行连锁分析,证实D13S26/HphI可用于Wilson病的症状前诊断。     

Tightly linked DNA probe for presymptomatic diagnosis and carrier detection of Wilson disease]

Haplotype analysis of the polymorphic loci, D13S26 and retinoblastoma (RB) gene which were closely linked to the gene responsible for Wilson disease (WD), was carried out to predict the presymptomatic stage or to detect carrier status in phenotypically normal sibs in 9 Chinese families with WD syndrome. By analysis of D13S26/HphI and RB/XbaI sites, 72% parents in these families were haplotypically heterozygote and therefore informative for linkage study. In 9 phenotypically normal sibs in these families, presymptomatic status was predicted with 99.2% confidence in 1 and excluded in 4. In the other 4 cases, 2 were unpredictable and 2 were at least heterozygote and had 50% chance of being WD homozygote, depending on which chromosome they have got from their fathers.     

D13S133位点CA重复序列在正常中国人群的多态性分布

目的研究Ｄ１３Ｓ１３３位点ＣＡ重复序列在正常中国人群的多态性分布。方法：应用ＰＣＲ扩增该位点的ＣＡ重复序列，通过变性聚丙烯酰胺凝胶电泳检测扩增产物，测定６０个正常中国人的等位片段。结果：共检测到１５种不同长度的等位片段，多态信息含量（ＰＩＣ值）为０．８８１。结论：该位点在中国人群中具有长度多态性，且其多态性分布与西方人群存在明显差异。     

Gene diagnosis of hemophilia A

Hemophilia A is the most common inherited bleeding disorder in man. The disease is caused by a deficiency in the gene for factor VIII. A genetic marker in the form of RFLP within or tightly linked to the factor VIII gene may serve as a tag for the hemophilia gene, thus allowing both accurate carrier detection and earlier prenatal diagnosis. Five RFLP (BclI/FVIII-e18, XbaI/FVIII-i22, BclI/St14, TaqI/St14 and BglII/DX13), which are related to hemophilia gene, were studied. The frequencies of allele of TaqI/St14 and BglII/DX13 in Chinese are obviously different from those in Caucasian. By the use of RFLP, 21 families with hemophilia A were analysed. The feasibility and strategy of gene diagnosis of hemophilia A by the use of RFLP are discussed.     

肝豆状核变性基因连锁图谱的研究

为寻找适于中国人Ｗｉｌｓｏｎ氏病（ＷＤ）基因连锁分析的遗传标记及制定ＷＤ基因所在区域的遗传图谱，我们应用Ｄ１３ｑ１４－２１区域４个ＤＮＡ标记对７５名无亲缘关系个体及９个ＷＤ家系成品进行连锁分析。结果发现４个ＤＮＡ标记中３个标记等位片段与白种人相同而杂合率相异，其中２个ＤＮＡ标记Ｄ１３Ｓ３１，Ｐ１２３Ｍ１．８与ＷＤ基因存在紧密连锁关系。其遗传顺序为：着丝点－Ｒｂ－Ｄ１３Ｓ３１－ＷＮＤ。     

D5S436位点的Amp-FLP分析及其在哮喘基因诊断中的应用

用扩增片段长度多态性技术（Ａｍｐ ＦＬＰ）分析中国人的Ｄ５Ｓ４３６位点的ＤＮＡ多态性。检测了９２名无血缘关系的中国人，发现了８个等位基因，２２种基因型，杂合性为７８．２６％，多态信息量为０．７９。观察的基因型频率的分布符合Ｈａｒｄｙ Ｗｅｉｎｂｅｒｇ遗传平衡。检测的４例哮喘家系成员的基因型结果说明该位点属孟德尔式遗传，并可以作为中国人的哮喘基因的遗传标记对哮喘家系进行基因诊断     

中国成都汉族和大理白族群体D3S1545基因座的遗传多态性研究

为了解我国成都汉族群体和大理白族群体 Ｄ３ Ｓ１５４５ 基因座的遗传多态性,获得中国汉族和大理白族 Ｄ３ Ｓ１５４５ 基因座的群体遗传学数据。采集了 １４８ 名无血缘关系的中国成都汉族个体和９６ 名无血缘关系的大理白族个体的 Ｅ Ｄ Ｔ Ａ 抗凝血样。 Ｃｈｅｌｅｘ 法提取 Ｄ Ｎ Ａ。 Ｐ Ｃ Ｒ 扩增样本 Ｄ Ｎ Ａ,聚丙烯酰胺凝胶水平电泳分型。结果显示：在中国成都汉族群体中, Ｄ３ Ｓ１５４５ 共发现 ９ 个等位基因,等位基因频率为 Ｄ３ Ｓ１５４５８：００６４２; Ｄ３ Ｓ１５４５９：０００３４; Ｄ３ Ｓ１５４５１０：０．００６８; Ｄ３ Ｓ１５４５１１：０．０２０３; Ｄ３ Ｓ１５４５１２：０．１８２４; Ｄ３ Ｓ１５４５１３：０．３０７５; Ｄ３ Ｓ１５４５１４：０３２４３; Ｄ３ Ｓ１５４５１５：０．０８４４; Ｄ３ Ｓ１５４５１６：０．００６８。在大理白族群体中, Ｄ３ Ｓ１５４５ 共发现６ 个等位基因,等位基因频率为 Ｄ３ Ｓ１５４５８：０．００７８１; Ｄ３ Ｓ１５４５１１：０．０２６１; Ｄ３ Ｓ１５４５１２：０．１７１９; Ｄ３ Ｓ１５４５１３：０．３９０６; Ｄ３ Ｓ１５４５１４：０２４４８; Ｄ３ Ｓ１５     

中国成都汉族和大理白族群体D3S1545基因座的遗传多态性研究

为了解我国成都汉放肆本和大理白族群体Ｄ３Ｓ１５４５基因座的遗传多态性,获得中国汉族和大理白族Ｄ３Ｓ１５４５基因座的群体遗传学数据。采集了１４８名无血缘的中国成都汉族个体和９６名无血缘关系的大理白族个体的ＥＤＴＡ抗凝血ｈｅｌｅｘ法提取ＤＮＡ。ＰＣＲ扩增样本ＤＮＡ,聚丙烯酰胺凝胶水平电泳分开。结果显示：在中国成都汉群体中,Ｄ３Ｓ１５４５共发现９个等位基因,等位基因频率为Ｄ３Ｓ１５４６＊８;０．０６５２     

中国壮族,白族,藏族和蒙古旋群体中D19S400基因座的遗传？…

采用ＰＣＲ技术分析中国壮族，白族，藏族和蒙古族４个群体中Ｄ１９Ｓ４００基因座的遗传多 性，获得了该４个群体Ｄ１９Ｓ４００基因座的群体遗传学数据。从３５６份分别采自南宁壮族，大理白族，拉萨藏族和海拉尔蒙古族４个群体的无血缘的关系个体的静脉血。     

中国壮族、白族、藏族和蒙古族群体中D19S400基因座的遗传多态性研究

采用ＰＣＲ技术分析中国壮族、白族、藏族和蒙古族４个群体中Ｄ１９Ｓ４００基因座的遗传多态性，获得了该４个群体Ｄ１９Ｓ４００基因座的群体遗传学数据。从３５６份分别采自南宁壮族、大理白族、拉萨藏族和海拉尔蒙古族４个群体的无血缘关系个体的静脉血，共发现９个等位基因，观察到４０种基因型。观察杂合度为０．７５～０．８９，个人识别机率为０．９２７４～０．９６２５。观察到的基因型频率分布符合Ｈａｒｄｙ－Ｗｅｉｎｂｅｒｇ平衡定律。等位基因频率的分布在４个群体之间有显著性差异。作者认为Ｄ１９Ｓ４００基因座个人识别能力高，方法简便、灵敏、重复性好，在法医学个人识别和亲子鉴定应用中有较高的价值。