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X连锁遗传的薄基底膜肾病与COL4A5基因连锁
引用本文:张承英,朱世乐,章友康.X连锁遗传的薄基底膜肾病与COL4A5基因连锁[J].中华医学杂志,2000,80(8):582-584.
作者姓名:张承英  朱世乐  章友康
作者单位:[1]北京武警部队总医院肾内科 [2]北京医科大学第一临床医院肾内科
基金项目:国家自然科学基金!资助项目 (39870 353)
摘    要:目的 运用X染色体上与COL4A5基因紧密连锁的微卫星标志2B6及DXS101对9个薄基底膜肾病家系进行基因连锁分析。方法 用PCR扩增9例薄基底膜肾病患者及其家系成员X染色体上的微卫星标志2B6及DXS101,10%聚丙烯酰胺凝胶电泳后银染分析结果,运用PPAP软件计算Lod score值。结果 3个家系的薄基底膜肾病与X染色体上的COL4A5基因连锁,座位间的Lod score值为2.7,θ=

关 键 词:薄基底膜肾病  X连锁遗传  COL4A5基因连锁
修稿时间:1999-07-28

X-linked thin basement membrane nephropathy was linked with COL4A5 gene
ZHANG Chengying,ZHU Shile,ZHANG Youkang.X-linked thin basement membrane nephropathy was linked with COL4A5 gene[J].National Medical Journal of China,2000,80(8):582-584.
Authors:ZHANG Chengying  ZHU Shile  ZHANG Youkang
Institution:Department of Nephrology, The First Hospital of Beijing Medical University, Beijing 100034, China.
Abstract:OBJECTIVE: To genetically analyze 9 thin basement membrane nephropathy (TBMN) pedegrees using microsatellite marker 2B6 and DXS101 closely linked with COL4A5 gene located on chromosome X. METHODS: Genomic DNA was extracted. Highly polymorphic microsatellite markers (2B6 and DXS101) closely linked with COL4A5 gene located on chromosome X were amplified with PCR. Nine TBMN families were analysed. RESULTS: Three of 9 TBMN families were linked with COL4A5 gene on chromosome X (lod score = 2.7, theta = 0.00). CONCLUSION: X-linked TBMN is linked with COL4A5 gene on chromosome X.
Keywords:Kidney diseases  Basilar membrane  Linkage (Genetics)
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