东北地区正常人群St14(DXS52)位点VNTR多态分布及在甲型血友病基因诊断中的应用  

POLYMORPHISM DISTRIBUTION OF ST14(DXS52) VNTR IN NORMAL INDIVIDUALS IN NORTHEASTERN REGION OF CHINA AND ITS APPLICATION IN GENE DIAGNOSIS OF HEMOPHILIA A

作　　者：金春莲[1,2] 林长坤[1,2] 宋军 姜莉[1,2] 董文翰[1,2] 张学[1,2] 孙开来[1,2] 

机构地区：[1]中国医科大学医学遗传学教研室 [2]中国医科大学第二附属医院儿科

出　　处：《中华医学遗传学杂志》1998年第1期31-34,共4页Chinese Journal of Medical Genetics

摘　　要：目的探讨中国正常人群Ｓｔ１４（ＤＸＳ５２）位点ＶＮＴＲ多态分布，为甲型血友病基因诊断提供依据。方法应用ＰＣＲ方法检测东北地区遗传上无相关的正常汉族个体６０人，男１２人，女４８人，总计１０８条Ｘ染色体。结果共检出８种等位基因片段，最短片段为０．７ｋｂ（Ａ），依次为１．３（Ｂ），１．３９（Ｃ），１．５７（Ｄ），１．６３（Ｅ），１．６９（Ｅ），２．１（Ｇ），２．４ｋｂ（Ｈ）等不同长度的等位片段，其等位基因频率为Ａ０．３９，Ｂ０．０４６，Ｃ０．０８３，Ｄ０．２３２，Ｅ０．１１１，Ｆ０．１３０，Ｇ０．００９，Ｈ０．００９等，其ＰＩＣ为７６．３６％。利用此ＶＮＴＲ多态作为遗传标记，对３个甲型血友病家系进行连锁分析，在一个家系中确定了一名女性为正常人，而非携带者；在另两个家系中各检出一名男性胎儿患者。结论Ｓｔ１４（ＤＸＳ５２）位点ＶＮＴＲ多态是对甲型血友病基因诊断很有应用价值的遗传标记。Objective To find out the polymorphism distribution of St14(DXS52) variable number of tandem repeat (VNTR) in normal individuals in the northeastern regin of China and hence provide a proof for the gene diagnosis of hemophilia A. Methods 60 unrelated individuals (male 12, female 48) in the northeastern region of china were detected using PCR method. Results 8 allelic fragments detected were 0.7kb(A), 1.3kb(B), 1.39kb(C), 1.57kb(D), 1.63kb(E), 1.69kb(F), 2.1kb(G), 2.4kb(H) long in turn. Their frequencies were A 0.38, B 0.046, C 0.232, E 0.111, F 0.130, G 0.009, H 0.009 respectively. polymorphism information contents (PIC) was 76.36%. Gene diagnosis of 3 hemophilia A patients was performed using this VNTR polymorphism. In one family a female was determined to be a normal individual, not a carrier; 2 male fetus patients were detected in other 2 families. Conclusion St14 is a valuable polymorphism marker for gene diagnosis of hemophilia A.

关 键 词：甲型血友病 基因诊断 VNTR 中国 遗传多态性 

分 类 号：R554.3[医药卫生—血液循环系统疾病] Q346.5[医药卫生—内科学]