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DXS10 1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DXS10 1,10 %聚丙烯酰胺凝胶电泳后银染分析结果 ,运用PPAP软件计算Lodscore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Lodscore值为 2 .7,θ=0 .0 0。结论 X连锁遗传的薄基底膜肾病与位于X染色体上的COL4A5基因连锁。
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, θ=0 00). Conclusion X linked TBMN is linked with COL4A5 gene on chromosome X.
出处
《中华医学杂志》
CAS
CSCD
北大核心
2000年第8期582-584,共3页
National Medical Journal of China
基金
国家自然科学基金!资助项目 (39870 353)
