遗传性甲状旁腺功能减退症分子诊断技术

Molecular diagnostic techniques for hereditary hypoparathyroidism

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.