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題 名 | Molecular Diagnosis of Apert Syndrome in Chinese Patients=國人亞伯特氏症的分子診斷學 |
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作 者 | 蔡輔仁; 蔡長海; 彭慶添; 林炫沛; 胡務亮; 王作仁; 李正淳; 鄔哲源; | 書刊名 | 中華民國小兒科醫學會雜誌 |
卷 期 | 40:1 民88.01-02 |
頁 次 | 頁31-33+59 |
分類號 | 417.107 |
關鍵詞 | 亞伯特氏症; 中國人; 分子醫學診斷; Apert syndrome; Chinese; Molecular diagnosis; Direct sequencing; Restriction analysis; |
語 文 | 英文(English) |
中文摘要 | 亞伯特氏症(Apert syndrome)是一種合併顱骨提前癒合及手腳嚴重併指的先天畸 型症候群,其起因於第二號纖母成長因子受體 (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產前診斷。 |
英文摘要 | 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 Apert syndrome were studied by the use of restriction analysis and direct sequencing. The results demonstrated that 13 had the Ser 252 Trp mutation and 2 had the Pro 253 Arg mutation. Prenatal diagnosis of the fetus was successfully made. |
本系統中英文摘要資訊取自各篇刊載內容。