视网膜母细胞瘤基因内VNTR的多态分析  

Analysis of polymorphic VNTR within the retinoblastoma(RB1)gene.

作　　者：李铁臣[1] 曾瑞萍[2] 胡彬[2] 

机构地区：[1]芜湖市皖南医学院生物学教研室,241001 [2]广州市中山医科大学遗传学教研室,510080

出　　处：《中国优生与遗传杂志》2001年第1期23-24,共2页Chinese Journal of Birth Health & Heredity

摘　　要：VNTR区是连锁分析和个体鉴别的有效遗传标志。本文采用PCR方法扩增了人类RB1基因第 2 0内含子的VNTR多态位点 ,扩增产物经 6 %聚丙烯酰胺凝胶电泳 ,银染显示。结果表明该多态位点由多个等位片段构成 ,片段的大小在30 0 - 40 0bp之间。在 10 8例无亲缘关系的个体中 ,我们检测到 76例为杂合子 ,杂合子频率为 70 %。此外 ,我们还探讨了RB1.2 0VNTR在视网膜母细胞瘤产前诊断中应用的可能性。The VNTR regions are informative genetic markers for linkage mapping and individual identification.Using PCR,the polymorphic VNTR located in the 20th intron of human RB1 gene was amplified.The amplified products wre resolved by 6% polyacrylamide gel electophoresis.The DNA was visualized by silver-staining.The polymorphism of RB1.20 VNTR locus was detected.This polymorphic locus consisted of many alleles.These alleles varied in size from 300 to 400bp.Amorng 108 unrelated individuals form the population in Chinese, 76 heterozygotes were detected,the heterozygous frequency was 70%.In addition,possible application of The RB1.20 VNTR polymorphism in the prenatal diagnosis of retinoblastoma was disscussed.

关 键 词：VNTR PCR 视网膜母细胞瘤基因 多态分析 

分 类 号：R739.7[医药卫生—肿瘤]