寡而大肾发育不良患儿HNF-1β基因及PAX2基因的突变分析

摘要

目的 检测、分析寡而大肾发育不良患儿的HNF-1β基因及PAX2基因,从单基因突变的角度探索寡而大肾发育不良的发病机制.方法 对1例临床以及肾脏病理确诊的寡而大肾发育不良患儿及其父母进行研究.提取患儿及其父母的外周血白细胞基因组DNA,PCR扩增HNF-1β基因9个外显子及PAX2基因12个外显子,测序并分析序列.结果 患儿及其父母的HNF-1β基因及PAX2基因均未发现致病性突变.结论 HNF-1β基因及PAX2基因不是该寡而大肾发育不良患儿的致病基因,该病发病机制还有待于进一步研究.%Objectives To analyze whether oligomeganephronia was related to mutations of HNF-1β gene or PAX2 gene.Method Genomic DNA of a 10-year-old boy, who was diagnosed of oligomeganephronia by renal biopsy,and that of his parents were extracted from peripheral blood leukocytes.Polymerase chain reaction was carried out for the 9 exons of HNF-1β gene and 12 exons of PAX2 gene, and direct DNA sequencing was performed.Results No pathogenic mutation was found in HNF-1β gene and PAX2 gene in the boy and his parents.Conclusions Both HNF-1β gene and PAX2 gene were not responsible for tie boy's renal disease.Further study on the pathogenesis of oligomeganephronia is still needed.