郑州大学学报（医学版）Issue(5)：723-726,4.DOI:10.13705/j.issn.1671-6825.2014.05.036
常染色体显性遗传 Alport 综合征一家系 COL4 A3及 COL4 A4的基因突变
Mutation analysis for COL4A3 and COL4A4 genes in an autosomal domi-nant Alprot syndrome family
摘要
Abstract
Aim:To find the pathogenic mutations among an autosomal dominant Alport syndrome ( AS) family.Meth-ods:All exons of COL4A3 and COL4A4 genes of proband were detected by PCR technology and direct sequencing ,and the mutations were analyzed by comparing with others in this family ,healthy individuals and GenBank sequence .Results:Total eight mutations in COL4A3/COL4A4 genes included one missense mutation ,one intron mutation and six sequence varia-tions.A novel missense mutation(c.4195 A>T,M1399L)at 44th exon of COL4A4 was found,and this mutation showed heterozygous in all patients of this family .A novel intron mutation in c .4127+11 C>T was observed.Other six sequence variations included c .1195 C>T,and c.1223 G>A in COL4A3 gene,and c.3011 C>T,c.4207 T>C,c.4548 A>G and c.4932 C>T in COL4A4 gene.Conclusion:The novel missense mutation ( c.4195 A>T,c.4127+11 C>T) maybe re-sponsible for the cause of AS in this family .关键词
Alport 综合征/常染色体显性遗传/COL4A3基因/COL4A4基因Key words
Alport syndrom/autosomal dominant heredity/COL4A3 gene/COL4A4 gene分类
医药卫生引用本文复制引用
束双双,张连云,黄艳梅,张晶,杨保胜,咸韦..常染色体显性遗传 Alport 综合征一家系 COL4 A3及 COL4 A4的基因突变[J].郑州大学学报（医学版）,2014,(5):723-726,4.基金项目
新乡医学院高学历人才启动基金资助项目2005年；新乡医学院大学生课题资助项目2011年 （）
