Goossens M, Lee K Y, Dozy A M, Saint Martin C, Monplaisir N, Seytor S, Yoyo M, Dubart A, Rosa J, Kan Y W
Nouv Presse Med. 1981 Feb 14;10(6):387-9.
The genetic polymorphism previously reported to be associated with the sickle-cell (beta S) gene in black U.S.A. citizens was studied in the population of two French West-Indies islands in order to evaluate its potential application to the antenatal diagnosis of sickle-cell anaemia. The polymorphism consists of a change in the DNA sequences located near the 3' end of the beta globin gene. The change can be detected by means of the restriction endonuclease Hpa I. When cellular DNA is digested with this enzyme, the beta globin gene is contained in a DNA fragment measuring either 7.6 or 13.0 kilobases (kb). In 70% of SS homozygous subjects in Martinique and 57% in Guadeloupe the beta S gene was carried by a 13.0 kb DNA fragment, whereas the normal beta A gene was carried by a 7.6 kb DNA fragment. This polymorphism would make it possible to detect the foetal beta S gene in the DNA of amniotic fluid cells by linkage analysis.
为了评估其在镰状细胞贫血产前诊断中的潜在应用,对美国黑人中先前报道的与镰状细胞(βS)基因相关的遗传多态性在法属西印度群岛的两个岛屿人群中进行了研究。这种多态性由位于β珠蛋白基因3'末端附近的DNA序列变化组成。这种变化可以通过限制性内切酶Hpa I检测到。当用这种酶消化细胞DNA时,β珠蛋白基因包含在一个大小为7.6或13.0千碱基(kb)的DNA片段中。在马提尼克岛70%的SS纯合子个体和瓜德罗普岛57%的个体中,βS基因由一个13.0 kb的DNA片段携带,而正常的βA基因由一个7.6 kb的DNA片段携带。这种多态性使得通过连锁分析在羊水细胞DNA中检测胎儿βS基因成为可能。