遗传性甲状旁腺功能减退症分子诊断技术  

Molecular diagnostic techniques for hereditary hypoparathyroidism

作　　者：王亚冰 聂敏 邢小平 WANG Ya-bing;NIE Min;XING Xiao-ping(Department of Endocrinology,Key Laboratory of Endocrinology of National Health Commission,Peking Union Medical College Hospital,Chinese Academy of Medical Science&Peking Union Medical College,Beijing 100730,China)

机构地区：[1]中国医学科学院北京协和医学院北京协和医院内分泌科国家卫生健康委员会内分泌重点实验室,北京100730

出　　处：《中华骨质疏松和骨矿盐疾病杂志》2021年第5期512-518,共7页Chinese Journal Of Osteoporosis And Bone Mineral Research

基　　金：国家自然科学基金面上项目(81270873,81873641)。

摘　　要：分子诊断技术的进展使得越来越多的甲状旁腺功能减退症(hypoparathyroidism,HP)候选致病基因被发现,遗传因素已被证实在儿童HP发病中有重要作用。因该病候选基因种类繁多,且有不同的突变形式,如点突变和拷贝数变异,选用合适的诊断技术仍是临床医师面临的难题。本文就近年来常用的分子诊断技术在遗传性HP中的应用进行综述。With the development of molecular diagnostic techniques,more and more candidate genes for hypoparathyroidism(HP)have been identified.Genetic factors have been proved to play an important role in the pathogenesis of HP in children.Due to the variety of candidate genes and different mutation types,such as point and copy number variations,selecting appropriate diagnostic technique is still a challenge for clinicians.In this review,we demonstrate the commonly used molecular diagnosis technology in hereditary HP.

关 键 词：遗传性甲状旁腺功能减退症 基因 分子诊断技术 

分 类 号：R582[医药卫生—内分泌]