Molecular Diagnosis of Apert Syndrome in Chinese Patients

國人亞伯特氏症的分子診斷學

蔡輔仁(Fuu-Jen Tsai) ； 蔡長海(Chang-Hai Tsai) ； 彭慶添(Ching-Tien Peng) ； 林炫沛(Shuan-Pei Lin) ； 胡務亮(Wuh-Liang Hwu) ； 王作仁(Tso-Ren Wang) ； 李正淳(Cheng-Chun Lee) ； 鄔哲源(Jer-Yuarn Wu)

《Acta Paediatrica Sinica》 40卷1期 (1999/02) Pp. 31-33

https://doi.org/10.7097/APS.199902.0031

摘要

亞伯特氏症(Apert syndrome)是一種合併顱骨提前癒合及手肢嚴重併批的先天畸型症候群，其起因於第二號鐵母成長因子受體(FGFR2)的基因突變。本研究針對15名亞伯特氏症病人及一懷孕的亞伯特氏症母親之胎兒，利用酵素分析及直接定序的方法，結果發現13個病人帶有Ser252Trp突變，其他二個則有Pro253Arg突變。利用此分生技術，我們不僅可以幫忙臨床診斷，亦可成功藉此的完成産前診斷。

關鍵字

亞伯特氏症 ； 中國人 ； 分子醫學診斷

並列摘要

Apert syndrome is a clinically distinct condition characterized by craniosynostosis and severe syndactyly of the hands and the feet. Apert syndrome results from either of two specific nucleotide substitutions, both C-to-G transversions, in the fibroblast growth factor receptor 2 (FGFR2) gene. To determine if Chinese Apert syndrome patients carry the same mutations, fifteen unrelated Apert syndrome patients and a fetus from a mother with A pert syndrome were studied by the use of restriction analysis and direct sequencing. The results demonstrated that 13 had the Ser252Trp mutation and 2 had the Pro253Arg mutation. Prenatal diagnosis of the fetus was successfully made.

並列關鍵字

Apert syndrome ； Chinese ； molecular diagnosis ； direct sequencing ； restriction analysis