中国病理生理杂志2017，Vol.33Issue(1)：170-173,4.DOI:10.3969/j.issn.1000-4718.2017.01.029
APOL1基因变异的检测及其与高血压肾病的初步关联研究
Establishment of whole-gene sequencing for APOL1 gene variations and its preliminary interconnection with hypertensive renal disease
摘要
Abstract
AIM:To establish whole-gene sequencing method for apolipoprotein L 1 (APOL1) gene, and to ex-amine a potential interconnection between APOL1 variations and hypertensive renal disease ( HRD) in Chinese Han popula-tion.METHODS:According to confirmed gene sequence , 7 pairs of primes for APOL1 gene exons 2~7 were designed. Peripheral blood was collected and total genomic DNA was prepared for PCR .PCR products were purified and Sanger se-quencing analysis was performed in 10 patients with HRD .Genetic variations were visualized and evaluated by Mutation Surveyor software .The association of APOL1 variations with HRD was evaluated .RESULTS:Six APOL1 gene exons were amplified successfully , and their PCR products were identified to contain target sequences by sequencing .APOL1 gene ex-ons 2~7 were amplified and variations were detected by Sanger sequencing .Two nonsynonymous mutations of APOL1 gene, c.382 C>T (p.R128C) and c.533 C>T (p.A178V), were found in 2 of 10 HRD patients, and their functional impacts were predicted to be likely pathogenic .CONCLUSION: Whole-gene sequencing analysis showed that variants of APOL1 gene existed in Chinese Han HRD patients .It’ s necessary to collect more samples to evaluate potential association between APOL1 gene variations and HRD .关键词
载脂蛋白L1/基因变异/高血压肾病Key words
Apolipoprotein L1/Genetic variation/Variant/Hypertensive renal disease分类
医药卫生引用本文复制引用
陈龙,岑东,杨律,宋文慧,陈其军,唐莉,吕建新..APOL1基因变异的检测及其与高血压肾病的初步关联研究[J].中国病理生理杂志,2017,33(1):170-173,4.基金项目
浙江省医药卫生科学研究基金资助项目（No．2014KYB243）；宁波市科技计划 （）
