單基因糖尿病之診斷及其新進展

10.6666/ClinMed.2017.79.4.043

蔡佩珊；林道承

單基因糖尿病(monogenic diabetes mellitus) ； 新生兒糖尿病(neonatal diabetes mellitus) ； 年輕人成年型糖尿病(maturity-onset diabetes of the young, MODY) ； 次世代定序(next generation sequencing)

臨床醫學月刊

79卷4期（2017 / 04 / 28）

233 - 239

繁體中文

糖尿病是一種高血糖的代謝疾病，是由於胰島素分泌和作用的缺陷所導致。單基因糖尿病是由於基因突變導致胰臟β細胞功能障礙所引起。傳統上，依照病人臨床上的症狀和表型，公認診斷的標準方法是利用Sanger定序來檢測出突變的基因。通常我們需要花較多的時間和經費，依序找出致病的突變基因。對於許多不同突變基因而導致的同一疾病表現， Sanger 定序的方法則有其極限。次世代定序是一種高通量技術，能夠在短時間的一次操作中定序多個基因進而找出突變位置。近日來，越來越多的研究使用這種新技術來檢測孟德爾遺傳疾病和單基因糖尿病的突變基因。利用次世代定序，不僅能更迅速診斷單基因糖尿病，更能深入了解其病理機轉，並且給予病人更適當及個人化的治療。

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