一个近亲婚配家系中的一种P基因新突变  

A novel P gene mutation in a Chinese family with oculocutaneous albinism

作　　者：段红蕾[1] 李洪义[1] 吴维青[2] 郑辉[3] 陈争[1] 陈路明[1] 

机构地区：[1]中山大学中山医学院医学遗传学研究室,广州510089 [2]深圳市妇幼保健院 [3]暨南大学医学院分子生理学研究室

出　　处：《中华医学遗传学杂志》2006年第6期614-617,共4页Chinese Journal of Medical Genetics

基　　金：广东省自然科学基金(04009328);广州市科技局应用基础研究计划(2004J1-C0112);广东省医学科研基金(A2005345)~~

摘　　要：目的在DNA水平上对1个有2例患者的姨表兄妹近亲婚配家系中的眼皮肤白化病患者进行分型诊断。方法用PCR扩增先证者P基因及TYR基因各外显子、外显子-内含子交界区及3′端和5′端非翻译区,以DNA序列测定技术检测基因突变,以DNA测序技术和限制性内切酶酶切法检测该家系其他成员及群体中正常人的相应基因位点。结果先证者和其白化病妹妹为P基因A787T突变纯合子,其父母和表型正常的弟弟均为A787T突变杂合子。先证者TYR基因未见突变。群体中102名表型正常者中无A787T突变等位基因。结论在基因水平确定我国存在眼皮肤白化病Ⅱ型,同时发现了一种P基因病理性新突变。Objective To investigate gene mutations of a consanguineous family with two oculocutaneous albinism （OCA） patients. Methods Genomic DNA was prepared from peripheral leukocytes. All of the exons and flanking introns of P gene and TYR gene were PCR-direct-sequenced. Hha Ⅰ restriction fragment length polymorphism in codon 787 of the P gene was studied in the family and 102 unrelated normal Chinese individuals. Results Although no mutations were found in TYR gene, a missense mutation A787T was found in P gene. Two patients of the family were both homozygous for A787T. Their parents and brother were heterozygous for the mutation. The mutation was not observed among 102 normally pigmented subjects. Conclusion The A787T mutation is not a common polymorphism among normal Chinese and it seems most likely to be a pathological OCA2 mutation. This is the first report on the study of gene diagnosis in Chinese OCA2 patients.

关 键 词：眼皮肤白化病 P基因 基因诊断 基因突变 

分 类 号：R394[医药卫生—医学遗传学]