東南亞型地中海型貧血在台灣有很高的盛行率。因此產前診斷重型地中海型貧血對於此病的防治相當重要。最近幾年,產前基因診斷是利用羊膜穿刺、絨毛膜穿刺或抽臍帶血來得到胎兒細胞。這些侵入性的方法有可能對胎兒造成危險。而由母血中分離胎兒細胞是最不危險的方法。因此從母親周邊血液中純化胎兒細胞成為將來產前診斷單一基因缺陷疾病最可能的理想途徑。 本計畫的目的希望在台灣建立由母血中分離胎兒細胞的方法而且運用於產前診斷地中海型貧血。另一方面打算將這些生物技術延伸應用在其他台灣常見之單一基因缺陷遺傳疾病上。
There is a high prevalence of .alpha. thalassemia-1 SEA type in the Taiwan area. Prenatal diagnosis of severe forms of thalassemia is important for the prevention of this disease. Currently, amniocentesism, chorionic villus sampling (CVS) and fatal blood sampling are used to obtain fetal cells for genetic diagnosis. These invasive procedures pose a small but not negligible risk for the fetus. Isolating fetal cells from maternal blood for genetic analysis is the least invasive method. Prenatal diagnosis of single gene disorders by recovering fetal cells from maternal circulation appears to be a feasible approach. In this study, we would like to develop the methodology for the prenatal diagnosis of .alpha. thalassemia-1 SEA type by using the fetal cell enriching from maternal blood in Taiwan. Hopefully, this new methodology would be benefit both scientifically and clinical medical technology as well.
