甘肃地区一遗传痉挛性截瘫家系致病基因的定位
等位基因,,痉挛性截瘫,遗传性;等位基因;连锁(遗传学);聚合酶链反应;串联重复序列,1对象和方法,2结果,3讨论,【参考文献】
Molecular genetic studies of a hereditary spastic paraplegia pedigree from Gansu regionWANG TianCheng1,PEI ShiCheng1,HUANG ShangZhi2,LIANG DeSheng1,WANG WeiMin1
1Department of Neurology,Second Affiliated Hospital,Lanzhou Medical College,Lanzhou 730030,China,2School of Medical Genetics,Institute of Basic Medical Sciences,Chinese Academy of Medical Sciences & Peking Union Medical College,Beijing 100005,China
【Abstract】 AIM: To map related genes of an autosomal dominant hereditary spastic paraplegia from Gansu region in China.METHODS: The ADHSP family in Gansu was analyzed by linkage studies using 10 highly polymorphic microsatellite DNA markers at three usual chromosomal regions.RESULTS: The maxium LODScore of D2S2351 was 271(θ=0).CONCLUSION: In this Gansu family,the diseaserelated gene is linked to D2S2351 locus of SPG4 region.
【Keywords】 spastic paraplegia,hereditary;alleles;linkage(genetics);polymerase chain reaction;tandem repeat sequences ......
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