肝豆状核变性的基因诊断  

Gene diagnosis of wilson's disease

作　　者：乐俊河[1] 谢久永[1] 方炳良[1] 黄尚志[1] 王玫[1] 施惠平[1] 汤晓芙[1] 高秀贤[1] 罗会元[1] 

机构地区：[1]中国医学科学院基础医学研究所,中国协和医科大学基础医学部医学遗传研究室,北京军区总医院,北京协和医院神经科

出　　处：《中华神经精神科杂志》1995年第4期195-198,共4页

基　　金：国家自然科学基金;国家教委留学回国人员启动基金;美国中华医学基金

摘　　要：应用ｐＣＲ１３２４探针（Ｄ１３Ｓ３１）检测了中国人中ＴａｑⅠ和ＰｖｕⅡ位点的多态性、多态片段及频率，分别为：ＴａｑⅠ位点，４．２ｋｂ（０．６０）／６．５ｋｂ（０．４０）（ＰＩＣ０．３６）；ＰｖｕⅡ位点，４．６ｋｂ（０．６４）／６．５ｋｂ（０．３６）（ＰＩＣ０．３５）；与白种人相似。由此二位点组成４种单体型，频率分别为０．２６、０．３４、０．１５和０．２５，ＰＩＣ为０．７２。应用此二位点及ＲＢ／ＸｂａⅠ和Ｄ１３Ｓ２６／ＨｐｈⅠ位点对北方地区２０个肝豆状核变性家系进行ＲＦＬＰ单体型连锁分析，确定了相关个体的基因型。Abstract: D1 3S3 1 is most tightly linked to the Wilson's disease(WND)gene among the DNA markers available to us. Th e polymorphisms of the TaqⅠ and PvuⅡ restrict ion sites were analyzed using probe pCR 1 324(D1 3S3 1). Two polymorphic fragments were observed with both enzymes,4. 2 kb and 6.5 kb for TaqⅠ with frequencies of 0. 60 and 0. 40, and 4. 6 kb and 6. 5 kb for PvuⅡwith frequencies of 0. 64 and 0. 36 respectively. From the two polymorphisms four possible haplotypes with frequencies of 0.26,0. 34,0. 15 and 0. 25 were found to be highbinformative with a PIC of 0. 72. Linkage analysis was carried out in 20 WND families using D1 3S3l marker alone or together with the RB/XbaⅠand D13S26/HphⅠ.The genotypes could be determined in 16 of 23 sibs of the probands with full confidence,in 6 of 23, 50%exclusion diagnosis was possible. only in one was the genotype determination impossibie. One chromosome recombination was detected between the loci D1 3S3 1 and D1 3S26.

关 键 词：肝豆状核变性 连锁分析 基因诊断 基因型 

分 类 号：R742.404[医药卫生—神经病学与精神病学] R446.8[医药卫生—临床医学]