- 作者: 李賢雄; 張建國; 李龍雄; 林守田; 柯滄銘; 朱廣邦
- 作者服務機構: 臺北榮民總醫院醫學研究部基因重組研究室; 臺北市立仁愛醫院內科及實驗診斷科; 臺北醫學院內科; 國立臺灣大學醫學院婦產部
- 中文摘要:
本實驗的目的是利用核?酸聚合?連鎖反應,結合寡核?酸探針的雜交法,以偵測中國人常見的二種β-球蛋白基因的
突變_41-42密碼中4個鹼基TCTT之缺失內碼區第654處的鹼基C為T所取代。首先,以已知突變或限制?切割長
度多元性之β型地中海貧血症檢驗建立此法的正確性。據此,進一步分析臨床病徵的居間及微貧血症11個病例,結果顯
示,有5個病例屬於41-42密碼4個鹼基缺失之突變。本技術在檢驗的量及時間上皆頗省事,應可與利用限制?切割長
度多元性並用於β型地中海貧血症之產前診斷。
s - 英文摘要: The polymerase chain reaction and oligonucleotide probe hybridization technique were applied tothe detection of two common mutations of the β-globin gene found in Chinese, namely the 4-base pairdeletion at the 41-42 codons and the C to T substitution at nucleotide 654 of IVS-2. The accuracy of themethod was established using β-thalassemia cases with known mutations or haplotypes of the restrictionfragment length polymorphism (RFLP). A further 11 cases of thalassemia intermediate and thalassemiaminor were then analysed with the same approach. Our results showed that 5 of the 11 cases carried theTCTT-deletion at codons 41-42. Our method is economical both in terms of materials and time needed andis an alternative to the use of the molecular RFLP approach in the prenatal diagnosis of β-thalassemia.
- 中文關鍵字: β-globin gene; polymerase chain reaction; mutation detection.
- 英文關鍵字: --