摘要
目的对西藏地区的一个常染色体显性遗传的家族性痉挛性截瘫家系的致病基因进行定位研究。方法用常染色体显性遗传痉挛性截瘫的３个基因区域内的９个微卫星位点：Ｄ１４Ｓ２６４、Ｄ１４Ｓ７５、Ｄ１４Ｓ６９、Ｄ１４Ｓ２６６、Ｄ１４Ｓ６６、Ｄ２Ｓ２３４７、Ｄ２Ｓ２２５５、Ｄ１５Ｓ１２８和ＧＡＢＲＢ３对该家系进行连锁分析。结果各位点最大Ｌｏｄ值分别为：Ｄ１４Ｓ２６４：０．５１６３（θ＝０．０５）；Ｄ１４Ｓ７５：２．１０７２（θ＝０）；Ｄ１４Ｓ６９：０．２８４０（θ＝０．１０）；Ｄ１４Ｓ２６６：０．９３１１（θ＝０）；Ｄ１４Ｓ６６：０．７９９１（θ＝０）；ＧＡＢＲＢ３：０（θ＝０．４０）；Ｄ１５Ｓ１２８：０（θ＝０．４０）；Ｄ２Ｓ２２５５：０（θ＝０．４０）；Ｄ２Ｓ２３４７：０（θ＝０．４０）。结论本家系中的致病基因与ＳＰＧ３基因区域的Ｄ１４Ｓ７５位点连锁（θ＝０，最大Ｌｏｄ值为２．１０）。
Objective To study the location of disease related gene in a hereditary spastic paraplegia family with autosomal dominant inheritance in Tibet.Methods The AD HSP family in Tibet was analyzed by linkage studies using 9 highly polymorphic microsatellite DNA markers at three chromosomal regions. Results The maxium Lod Score of D14S264 was 0.5163(θ=0.05); of D14S75, 2.1072 (θ=0); of D14S69, 0.2840(θ=0.10); of D14S266, 0.9311(θ=0); of D14S66, 0.7991(θ=0); of GABRB3, 0(θ=0.40);of D15S128, 0.000(θ=0.40); of D2S2255, 0(θ=0.40); and of D2S2347, 0(θ=0.40). Conclusion In this Tibetian family, the disease related gene is linked to D14S75 locus of SPG3 region.
出处
《中华医学遗传学杂志》
EI
CAS
CSCD
北大核心
1999年第1期5-8,共4页
Chinese Journal of Medical Genetics
关键词
遗传性
痉挛性
截瘫
多态性连锁分析
PCR
Hereditary spastic paraplegia Linkage analysis Polymerase chain reaction Short tandem repeat
