1个北村网状肢端色素沉着症大家系ADAM10基因突变研究  

Study on ADAM10 gene mutation in a pedigree with a reticulate acropigmentation of Kitamura

作　　者：葛宏松[1] 张成[1] 周洁 曹婷婷[1] 董瑛[1] 吴建平 冉颖 张莉 李明[2] Ge Hongsong;Zhang Cheng;Zhou Jie(Dept of Dermatology,The Afiliated Ponincial Childrens Hospial of Anhui Medical University,Hefei 230032)

机构地区：[1]安徽医科大学附属省儿童医院皮肤科,合肥230032 [2]上海交通大学医学院附属新华医院皮肤科,上海200092

出　　处：《安徽医科大学学报》2020年第8期1303-1307,共5页Acta Universitatis Medicinalis Anhui

基　　金：国家自然科学基金(编号:81472867)。

摘　　要：调查中国1个北村网状肢端色素沉着症(RAK)大家系的临床表型并检测其ADAM10基因的突变位点。回顾分析RAK大家系5代54人临床资料,并采集了家系中部分成员及100例无血缘关系的健康对照者血标本。用PCR扩增ADAM10基因所有的外显子并进行测序分析。所有患者均表现为网状的雀斑样色素沉着斑分布于手足背面及颈部,并检测到ADAM10基因的第4号外显子发生移码突变(c.425-426 delGA;p.R142IfsX2),该突变在正常家系成员及无血缘关系的正常对照中未检测到。该新的ADAM10基因突变可能导致该基因编码的蛋白截短,从而导致疾病的发生。To investigate the clinical phenotype and ADAM10 mutated locus of reticular acral pigmentation in a Chinese pedigree.The clinical data of 54 people from 5 generations of RAK family were retrospectively analyzed,and some members of the family and 100 unrelated healthy control blood samples were collected.All exons of ADAM10 gene were amplified by PCR and sequenced.All the affected patients showed a network of freckle-like pigmentation spots distributed on the back and neck of the hands and feet.Transcoding mutations in the 4 th exon of ADAM10 gene(c.425-426 del GA;p.R142 Ifsx2)were detected in the probands of this family and in all patients,which was not detected in normal control family members or in non-related normal controls.A new mutation of ADAM10 gene may lead to the truncation of the protein that it encodes,resulting in the occurrence of disease.

关 键 词：网状肢端色素沉着症 ADAM10基因 突变 

分 类 号：R785.5[医药卫生—口腔医学]