摘要
视网膜母细胞瘤易感基因（Ｒｂ１）基因位点位于１３ｑ１４～２１，与Ｗｉｌｓｏｎ病基因位点相距４．４分摩（ｃｅｎｔｉｍｏｒｇａｎｓ，ｃＭ）．中国人Ｒｂ１基因５′端第１个内含子中Ｐ１２３Ｍ１，８标记的等位片段与白种人相同，但杂合率有差异。中国人Ｐ１２３Ｍ１．８／ＢａｍＨⅠ的多态性信息含量（ＰＩＣ）为０．５２，并与Ｗｉｌｓｏｎ病基因位点呈紧密连锁关系（θ＝０．０５，Ｚ＝３．８４６）。应用Ｐ１２３Ｍ１．８标记对９个Ｗｉｌｓｏｎ病家系进行连锁分析，证实该标记可用于Ｗｉｌｓｏｎ病的症状前诊断及杂合子检出。
Rb1 gene has been mapped to the long arm of chromosome 13(13q14─21),and is linked with Wilson's disease gene locus(WND) at a distance of 4. 4 centimorgans. We have analyzed the segregation of P123M1.8 at 5′-end of Rb1 gene in 75 unrelated normal Chinese individuals and found the polymorphic alleles detected by BamHⅠ are the same in Chinese as in Caucasians and the alleles are slightly different.Its polymorphic informative content(PIC)is 0. 52 and we confirmed a tight linkage between Rb1and WND with a lod score of 3. 846,θ=0. 05 by two-point linkage analysis. The results of RFLP analysis in 9 families with Wilson's disease at these two loci allowed us to conclude that the probe P123M 1.8is useful for presymptomatic diagnosis in Wilson's disease as well as in carrier detection in informative pedigrees.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
1995年第4期193-197,共5页
Chinese Journal of Medical Genetics
基金
国家教委博士点基金
关键词
肝豆状核变性
基因诊断
连锁分析
RB1
Wilson's disease Restriction fragment length polymorphism Gene diagnosis Rb1 gene
