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題名 | Evidence of Genetic Heterogeneity of Hypertrophic Cardiomyopathy in Eight Chinese Patients=國人肥厚性心肌症患者確具遺傳異質性 |
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作 者 | 黃達三; 陳穎從; 蘇紀旬; 胡為雄; 王國陽; 丁紀臺; | 書刊名 | 中華醫學雜誌 |
卷期 | 57:5 1996.05[民85.05] |
頁次 | 頁315-321 |
分類號 | 415.3165 |
關鍵詞 | β-肌凝蛋白重鏈; 肥厚性心肌症; 錯義突變; β-myosin heavy chain; Hypertrophic cardiomyopathy; Missense mutation; |
語文 | 英文(English) |
中文摘要 | 背景 肥厚性心肌症之遺傳基礎,已知一部分是由於心肌beta-肌凝蛋 白重鏈(beta-MHC),T親素和alpha-水不溶性肌蛋白基因之錯義突變所致。然而, 在已知突變部位之罹病家族,大部分是beta-MHC基因之突變。迄今在40餘罹 病家族之beta-MHC基因上,已鑑定出20種之錯義突變,分布在第8、9、13、14、 15、16、19、20、21和23顯譯子。故本研究選定這10個顯譯子進行分析偵測。 方法 罹此症之8位患者,39位家族成員和1位正常者納入本研究。從8位患 者和1位正常者之周邊靜脈血粹取出基因庫DNA,利用核酸複製機,複製大量 含beta-MHC基因上此10個顯譯子經磷-32標化之核酸片段,經變性後在含10% 和不含10%甘油之聚內烯硫醯胺凝膠上電泳,進行DNA單鏈形態多形性分析檢 測。此外,選取大量複製並純化之此l0個顯譯子片段,以二去氧鏈終止劑法, 進行直接核酸定序。 結果 DNA單鏈形態多形性分析之檢測,未見額外異常之條紋。直接核酸定序 法,亦未見異常之突變。 結論 在國人罹肥厚性心肌症之此8患者,皆非beta-MHC基因上此10個已知 熱門之顯譯子發生突變,顯見此症確具遺傳異質性。 |
英文摘要 | Background. The genetic basis causing hypertrophic cardiomyopathy (HCM) was found due to missense mutations in cardiac beta-myosin heavy chain (beta-MHC), cardiac troponin T and alpha-tropomyosin genes in certain affected families. However, most mutations and majority of the affected families were reported to be related to beta-MHC gene. Till now, 20 different missense mutations of beta-MHC gene identified in more than 40 independent families were distributed in exons 8, 9, 13, 14, 15, 16, 19, 20, 21 and 23. Therefore, we chose these 10 exons for screening. Methods. Eight probands with HCM and 1 normal control were included for screening. 32P-labeled PCR products of these 10 exons of beta-MHC gene were amplified from genomic DNA obtained from peripheral lymphocytes. PCR-DNA single strand conformation polymorphism (PCR-SSCP) analysis was performed using electrophoresis with polyacrylamide gels with and without 10% glycerol. Large amount copies of these 10 exons were also made from genomic DNA with PCR. Detection of sequencing variation of these exons was determined by the direct sequencing method with dideoxy chain termination method and 35S. Results. No abnormal extra bands were noted on PCR-SSCP analysis. Sequencing analysis showed no missense mutation in these probands. Conclusions. Genetic heterogeneity of HCM is evident in Chinese patients with HCM. |
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