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題 名 | Diagnosis of Duchenne and Becker Muscular Dystrophin Genes in Military Recruits by Multiplex Polymerase Chain Reaction=以複合式聚合酵素連鎖反應快速篩檢兵役体檢中罹患裘生或貝克肌肉萎縮的病患 |
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作 者 | 許燿東; 高銘欽; 鄧鐘泉; 徐偉成; 林健群; 曹汶龍; 陳慧蓮; | 書刊名 | 醫學研究 |
卷 期 | 17:6 1997.05[民86.05] |
頁 次 | 頁371-379 |
分類號 | 415.562 |
關鍵詞 | 複合式聚合酵素連鎖反應; 裘生型或貝克型失養性肌肉萎縮症; Multiplex PCR; Buchenne/Becker muscular dystrophy; |
語 文 | 英文(English) |
中文摘要 | 背景:裘生型或貝克型肌肉失養性萎縮症,是肌肉萎縮症中最常見的疾患。在役男體檢中,以貝克型較困惱醫師。在繁忙的兵役體檢中,快速且可信度高的診斷方法中,以複合式聚合酵素連鎖反應的基因檢查最為理想。研究方法及材料:在兵役體檢中,我們以複合式PCR共分析 82 位入伍新兵及其部份家族;其中包括9位臨床診斷為DMD,14位為BMD(內含5位家族性的DMD及6位家性BMD病患),16 位肌痙攣或運動耐性不良類似輕微 BMD 的病患及 21 位健康的新兵。 每位受測者皆抽血以萃取 DNA 來施行複合式 PCR篩檢。 本研究中, 我們共合成18條寡核酸引子以測定dystrophin基因的9個“hot spot”的 exons(其位置為exon 4, 8, 12, 17, 19, 44, 45, 48及51)。研究結果:複合式PCR篩檢的結果顯示23位病患中,有10位(43%,包括4位DMD及6位BMD)呈現明顯的dystrophin基因缺損,其中 6位(超過 50% 以上) 在表現序列45-51之間,兩位在表現序列8及12位置,1位在表現序列12及17,1位在表現序列12位置有基因缺損情形。基因缺損在DMD及BMD病患中由於患者人數不多,無法區分。然而在肌痙攣或運動耐性不良的役男中,並未測定到任何dystrophin基因缺損的現象。結論:複合式PCR可以快速又準確地診斷出43%的DMD/BMD病患;在診斷基因缺損方面,其敏感度高。這種診斷方法可在一天內完成,操作容易且不需放射物質。因此在篩檢DMD/BMD的病患或基因carrier的女性非常有效。役男中,表現肌痙攣或運動耐性不良等臨床症候的患者,較少有BMD式的基因缺損。此研究成果顯示複合式PCR除了可正確篩檢出此疾病外,亦可提供役男中罹患此症的盛行率,也可住一步探討此病,細胞治療或基因治療研究的可行性。 |
英文摘要 | A multiplex polymerase chain reaction (PCR) approach was used in the diagnosis for Duchenne and Becker muscular dystrophy (DMD/BMD) in physical screen of military recruits. We performed this approach to analyze the genomic DNA of 82 military recruits and their families, including five male patients with clinical features of DMD, six male patients with BMD in 11 sex-linked recessive families, four sporadic male DMD and eight sporadic BMD patients in 12 families and their unaffected members of the families, 16 muscle cramping or exercise intolerance patients whose clinical features mimic variable type of BMD, and 21 healthy individuals. Using 18 synthetic oligonucleotide PCR primers, we detected specific “hot-spots” within 9 exons of the dystrophin gene (e.g., exon 4, 8, 12, 17, 19, 44, 45, 48 and 51). The results from a single multiplex PCR amplification for 23 patients revealed 10 cases, 6 of them (>50%) have deletions between exons 45 and 51 including 4 cases at multiple exons of 45, 48 and 51, 1 at exon 45 and 51, and 1 at exon 51. In addition, 2 out of the 10 cases have deletions at exons 8 and 12, 1 out 10 at exon 12 and 17, and the rest one at exon 12. No difference in size or location was noted between DMD and BMD in this study. No deletion was detected in the military recruits with clinical features of muscle cramping or exercise intolerance. In conclusion, multiplex PCR is a sensitive, accurate and efficient method for the diagnosis of DMD/BMD. It is rapid and easy to perform. Furthermore, it needs no radioactive tracers. Using this approach, we carried out the diagnosis of DMD/BMD with a rate of 43%. On the other hand, we demonstrated that the deletion on the dystrophin gene was not found in patients with muscle cramping or exercise intolerance that mimic variable phenotype of BMD in military recruits. |
本系統中英文摘要資訊取自各篇刊載內容。