卵黄样黄斑营养不良一家系的BEST-1基因突变分析  

Analysis of BEST-1 gene mutations with vitelliform macular dystrophy in one Chinese family

作　　者：魏英华[1] 林英[2] 

机构地区：[1]辽宁医学院附属第三医院眼科,中国辽宁省锦州市121000 [2]中山大学中山眼科中心,中国广东省广州市510060

出　　处：《国际眼科杂志》2014年第6期1154-1156,共3页International Eye Science

摘　　要：目的:通过分子遗传学分析,确定中国东北地区一个先天性卵黄样黄斑营养不良家系在BEST-1基因的突变位点。方法:采集一先天性卵黄样黄斑营养不良家系2例患者及5例健康成员和100个正常对照者的外周静脉血,提取基因组DNA。应用聚合酶链反应(PCR)扩增BEST-1基因的10个编码外显子,直接测序确定致病的基因突变,并与100名正常对照者的基因筛查结果进行比较。结果:直接测序后发现该先天性卵黄样黄斑营养不良家系BEST-1基因的外显子中,未发现任何突变。结论:BEST-1基因的外显子不存在该先天性卵黄样黄斑营养不良家系的致病突变。AIM： To identify intragenic mutation loci of the BEST-1 gene with congenital vitelliform macular dystrophy by molecular genetic analysis at one family in Northeast China.METHODS：Genomic DNA was extracted from peripheral leukocyte of 2 patients and 5 healthy members in the family with vitelliform macular dystrophy and 100 normal controls. Ten exon sequences of BEST-1 amplified by polymerase chain reaction（PCR）were made direct DNA sequencing to define the gene mutation loci and compared with gene screening performed on 100 normal controls.RESULTS：After the direct DNA sequencing, no mutation loci was found in all the patients of this family with vitelliform macular dystrophy. CONCLUSION：There is no mutation in the exons of BEST-1 gene causing disease genes in this family.

关 键 词：BEST-1基因 先天性卵黄样黄斑营养不良 突变 BEST病 

分 类 号：R774.5[医药卫生—眼科]