摘要
目的 通过对３例薄基底膜肾病家系ＣＯＬ４Ａ５基因突变的分析，探讨薄基底膜肾病的发病机制，进一步了解薄基底膜肾病与Ａｌｐｏｒｔ综合征的联系，为肾脏疾病的诊断、家系遗传咨询提供更为全面的理论基础。方法 使用ＰＣＲ－ＳＳＣＰ的方法，对ＣＯＬ４Ａ５基因的５１个外显子进行分析，对ＳＳＣＰ异常者测序。结果 在１个家系中发现ＣＯＬ４Ａ５基因的６６９位的鸟嘌呤突变为胞嘧啶，导致Ⅳ型胶原α５链第１５６位甘氨酸突变为丙氨酸，而且该突变随疾病分布。结论 一部分薄基底膜肾病可能和Ａｌｐｏｒｔ综合征均为发生在同一类基因（ＣＯＬ４Ａ３、ＣＯＬ４Ａ４、ＣＯＬ４Ａ５）上的遗传性肾脏病，由于杂合状态或突变位置类型的不同而产生了不同的表型。
Objective: To investigate the mutations in COL4A5 in 3 X-linked thin basement membrane nephropathy families. Methods PCR-SSCR analysis were used for 51 exons of COL4A5 gene. If bands shift were found, then automated sequencing was performed after coloning in pGEM-T easy vectors. Results In one of the three families a glycine to alanine substitution was identified in the collagenous region of the COL4A5 gene, and the mutation cosegregates with hematuria in this family.Conclusion Some of thin basement membrane nephropathy may be due to mutation of COL4A5 gene.
出处
《中华内科杂志》
CAS
CSCD
北大核心
2001年第4期239-242,共4页
Chinese Journal of Internal Medicine
基金
国家自然科学基金资助项目(39870353)
