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題名 | Carrier Detection of Duchenne/Becker Muscular Dystrophy by Using Fluorescent Linkage Analysis in Taiwan=利用螢光基因連鎖分析偵測臺灣地區杜現型和貝克型肌肉無力症之帶因者 |
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作者 | 李正淳; 吳玫珍; 鄔哲源; 李采娟; 蔡輔仁; 蔡長海; Lee, Cheng-chun; Wu, Mei-chen; Wu, Jer-yuarn; Li, Tsai-chung; Tsai, Fuu-jen; Tsai, Chang-hai; |
期刊 | 臺灣兒科醫學會雜誌 |
出版日期 | 20000300、20000400 |
卷期 | 41:2 民89.03-04 |
頁次 | 頁69-74+110 |
分類號 | 415.9413 |
語文 | eng |
關鍵詞 | 杜現型和貝克型肌肉無力症; 螢光基因連鎖分析; 基因內多型性基因標誌; Duchenne/Becker muscular dystrophy; Fluorescent linkage analysis; Intragenic STR marker; |
中文摘要 | 杜現型和貝克型肌肉無力症(DMD/BMD)是由dystrophin基因突變造成的遺傳疾病,此基因位於X染色體上,全長2.5Mb。由於基因長度很長且結構複雜使突變分析異常困難。在台灣,約有45-58%的患者突變是由於基因缺失(deletion)造成的,其餘沒有基因缺的患者其帶因者的乃由基因連鎖分析法完成、本研究分析了沒有親屬關系的五十個正常台灣男性及五下個正常台灣女性(共150個X染色體)之十個位於DMD/BMD基因內熒光標定之多型性基因標志(這些多型性基因標志分別位於DMD/BMD基因之5端,內含子1、44、45、48、49、50、55-57及3端未轉譯區域)每個對偶基因之頻率及每個多型性基因標志之異型結合(heterozygosity)。結果顯示這些多型性基因標志在台灣族群之異型結合頻率爲46.7-88.3%,而且這十個多型 性基因標志非常適合用來作爲基因連鎖分析之標志。利用這十個位於DMD/BMD基因內熒光基因之多型性基因標志,本研究分析了十四個DMD/人62個家族成員其可疑帶因者之帶因狀況。對這些DMD/BMD家庭研究結果顯示熒光基因連鎖分析是非常有效的帶因才偵測法。總而言之,應用位於DMD/BMD基因內熒光標定之多型性基因標志來做熒光基因連鎖分析,非常適合臨床實驗室 用做DMD/BMD家庭的帶因者偵測及産前診斷。 |
英文摘要 | The mutation analysis of Duchenne/Becker muscular dystrophy (DMD/BMD) is made difficult by the size and structure of the gene. The dystrophin gene deletion is responsible for 45-58% of DMD/BMD cases in Taiwan. For the others, who have no deletions, carrier detection was performed by DNA linkage analysis. To determine frequencies of each allele and heterozygosity of each short tandem repeats (STR) marker, we analyzed 50 unrelated Taiwanese males and 50 unrelated Taiwanese females unaffected by DMD/BMD using ten fluorescently labeled intragenic markers (these ten being located in 5' terminus, intron 1, 44, 45, 48, 49, 50, 55-57 and 3' untranslated region of the human dystrophin gene). The predicted heterozygosity frequency is 46.7-88.3% in our study population and these STR markers are quite informative for linkage analysis. Using these ten intragenic STR markers, we analyzed 14 DMD/BMD families with 62 family members for carrier detection. Our retrospective study of DMD/BMD families highlights the informative power of STR haplotyping. In summary, STR analysis using (CA)n repeats within the human dystrophin gene is well suited for routine use in clinical laboratories engaged in linkage studies for carrier detection and prenatal diagnosis in DMD/BMD families. |
本系統之摘要資訊系依該期刊論文摘要之資訊為主。