摘要
目的:应用2号染色体长臂与Ⅳ型胶原α3,α4基因位点连锁的CA11和HaeⅢRFLP的多态性为遗传标记,对临床诊断为薄基底膜肾病的家系进行基因连锁定位分析。方法:从外周血白细胞分离染色体DNA,用PCR方法扩增两个遗传标记并酶切后,进行聚丙烯酰胺凝胶电泳,检测产物。用遗传统计学软件处理数据,判定结果。结果:3个薄基底膜肾病家系致病基因与微卫星CA11和HaeⅢRFLP之间Lods值为2.12(θ=0.00)。结论:这3个薄基底膜肾病家系的致病基因与Ⅳ型胶原α3和α4基因连锁。
Objective: To study whether the thin basement membrane nephropathy (TBMN) in Chinese pedigrees linked to α3 and α4 genes of type Ⅳcollagen(COL4A3 and COL4A4). Methods:Genomic DNA was extracted from blood lymphocytes of family members. Microsatellite CA11 and Hae Ⅲ RFLP, closely linked to the COL4A3 and COL4A4 loci at 2q35 37, were used as genetic linkage markers. Family genetic linkage analysis was performed with the Population and Pedigree Analysis Programs. Results: Linkage analysis indicated that the maximal Lod score of CA11, Hae Ⅲ RFLP and TBMN gene in three Chinese pedigrees was 2.12 at θ=0.00. Conclusion: In these three Chinese families, the gene of autosomal dominant TBMN linked with COL4A3 and COL4A4 genes at 2q35 37
出处
《北京医科大学学报》
CSCD
2000年第1期7-9,17,共4页
Journal of Peking University(Health Sciences)
基金
国家自然科学基金! ( 3 970 3 5 3 )
关键词
染色体显带
肾小球肾炎
基因连锁分析
遗传学
Chromosomes banding
Collagen
Linkage(genetics)
Glomerulonephritis, membranous/genet
Gene amplification
