公开(公告)号：US20170067110A1

公开(公告)日：2017-03-09

申请号：US15307061

申请日：2015-04-27

Applicant: KAGOSHIMA UNIVERSITY

Inventor： Hiroshi TAKASHIMA ,  Yujiro HIGUCHI ,  Akihiro HASHIGUCHI ,  Akiko YOSHIMURA

IPC: C12Q1/68

CPC classification number: C12Q1/6883 ,  C12M1/00 ,  C12Q2600/156

Abstract: The present invention relates to a detection method for a genetic disease, and specifically relates to detection of disease-causing genes for autosomal recessive inherited Charcot-Marie-Tooth disease (CMT). In the method according to the present invention, a mutation(s) in MME (membrane metallo-endopeptidase) gene, FAT3 (FAT tumor suppressor homolog 3) gene, and/or SELRC1 (Sell repeat containing 1) gene in a biological sample are/is detected.

Abstract translation: 本发明涉及遗传性疾病的检测方法，具体涉及常染色体隐性遗传性Charcot-Marie-Tooth病（CMT）的致病基因的检测。 在本发明的方法中，生物样品中的MME（膜金属内肽酶）基因，FAT3（FAT肿瘤抑制同源物3）基因和/或SELRC1（Sell repeat containing 1）基因的突变为 /被检测。