Hartnup病一家系基因突变研究  

Analysis of mutations in the SLC6A19 gene in a Chinese family with Hartnup disease

作　　者：姜薇[1] 李颂[2] 周存才 黄永初[4] 卜定方[4] 朱学骏[4] 

机构地区：[1]北京大学第三医院皮肤科,北京100191 [2]山东大学附属省立医院皮肤科,济南250021 [3]山西长治和平医院皮肤科,长治046000 [4]北京大学第一医院皮肤科,北京100034

出　　处：《中国麻风皮肤病杂志》2009年第12期877-879,共3页China Journal of Leprosy and Skin Diseases

摘　　要：目的:研究一Hartnup病家系的氨基酸转运蛋白基因(SLC6A19)的突变。方法:提取Hartnup病患者及家族成员的基因组DNA,采用聚合酶链反应(PCR)扩增SLC6A19基因所有的外显子,并对PCR产物进行测序序列分析。结果:Hartnup病患者SLC6A19基因存在异常:第6外显子第850位碱基由鸟嘌呤变为腺嘌呤,使第284位氨基酸由甘氨酸(G)转变为精氨酸(R),即G284R错义突变。其弟与患者突变相同。其父母均为G284R突变杂合子。结论: 该Hartnup病家系由氨基酸转运蛋白基因(SLC6A19)的G284R错义突变所致。Objective： To detect the mutation of amino acid lransporter （SLC6A19）gene in a family with Hartnup disease. Methods： The genomic DNA was extracted from the proband and her family members. All the encoding exons of SLC6AI9 were amplified by PCR. Mutation scanning was carried out via direct bi - directional DNA sequencing. Results： In the proband, there was a 850 G→A mutation located at codon 284（G284R） in exon 6 of SLC6A19 gene. The stone mutation was detected in her younger brother. The proband＇ s parents were heterozygote of G284R. Conclusion： The phenotype of Hartnup disease in the family is caused by missense mutation of G284R in SLC6A19 gene.

关 键 词：Hartnup病 突变 氨基酸转运蛋白基因 

分 类 号：R596.1[医药卫生—内科学]