眼皮肤白化病基因一种可疑致病突变二例  

Suspected pathogenic mutation identified in two cases with ocuiocutaneous albinism

作　　者：贺江梅[1] 郑梅玲[1] 张桂林[1] 化爱玲[1] 

机构地区：[1]山西医科大学第一医院遗传室,太原030001

出　　处：《中华医学遗传学杂志》2015年第4期509-511,共3页Chinese Journal of Medical Genetics

摘　　要：目的对两对曾生育白化病患儿的夫妇进行非综合征型眼皮肤白化病I～Ⅳ型和眼白化病I型相关基因的突变筛查，以了解携带者的突变类型。方法对非综合征型白化病相关基因TYR、OCA2、TYRP-1、MITF、SLC45A2和GPRl43各外显子进行深度测序，并通过Sanger测序验证结果。结果两位女性携带者均在TYR基因编码区发现了1个框移突变C．925—926insC，分析其为可疑致病突变。一例男性携带者在TYR基因编码区发现1个无义突变C．832C〉T，为已知致病突变，另一例男性携带者则在其TYR基因的编码区发现了一种已知的致病无义突变C．346C〉T。结论TYR基刚编码区的C．925926insC为OCA1型的可疑致病性框移突变。Objective To detect potential mutations in genes related with non-syndromic oculocutaneous albinism I- IV and ocular albinism type I in two couples who bad given births to children with albinism. Methods All exons of the non-syndromic albinism related genes TYR, OCA2, TYRP-1, MITF, SLC45A2 and GPR143 were subjected to deep sequencing. The results were verified with Sanger sequencing. Results For the two female carriers, the coding region of the TYR gene was found to harbor a frameshift mutation c. 925_926insC, which was also suspected to have been pathogenic. In one of the male partners, a nonsense mutations c. 832C〉T was found, which was also known to be pathogenic. Another male partner was found to harbor a TYR gene mutation c. 346C〉T, which was also known to be a pathogenic nonsense mutation. Conclusion The coding region of the TYR gene c. 925 926insC （p. Thr309ThrfsX9） probably underlies the OCA1 disease phenotype.

关 键 词：白化病 非综合征性眼皮肤白化病 基因突变 

分 类 号：R758.4[医药卫生—皮肤病学与性病学]