Jones J R, McCormack M, Dietzel C, Tricomi V, Ramirez F
Obstet Gynecol. 1982 Apr;59(4):484-9.
Using recombinant DNA methods and amniocentesis, the antenatal diagnosis of sickle cell disorders can be accomplished. This article presents the authors' experiences with 21 pregnancies at risk using HpaI and Hind III restriction enzyme digestions of adult leukocytic and fetal amniotic fluid cell DNA. The authors were able to establish direct beta A- and beta S-globin gene linkages to the restricted fragments in 9 families. In 8 families no direct linkages could be determined and estimates of exclusion of fetal beta S homozygosity were used. These estimates were made on the basis of the frequencies of association of the HpaI fragments with the beta S and beta A genes in the Afro-American population. In 4 families, no estimates or linkages could be established, and the patients were counseled in reference to fetoscopy. The data also indicated the frequencies of association of the HpaI fragments with the beta A and beta S gene in the New Jersey-New York population. These studies did not seem to indicate any exclusive preferential segregation of the HpaI and Hind III polymorphisms.
采用重组DNA方法和羊膜穿刺术，可实现镰状细胞疾病的产前诊断。本文介绍了作者对21例有风险妊娠的经验，这些妊娠采用成人白细胞和胎儿羊水细胞DNA的HpaI和Hind III限制性酶切。作者能够在9个家族中建立直接的βA和βS珠蛋白基因与限制性片段的连锁关系。在8个家族中，无法确定直接连锁关系，因此使用了排除胎儿βS纯合性的估计值。这些估计是基于非裔美国人中HpaI片段与βS和βA基因的关联频率做出的。在4个家族中，无法建立估计值或连锁关系，因此针对胎儿镜检查向患者提供了咨询。数据还表明了新泽西-纽约人群中HpaI片段与βA和βS基因的关联频率。这些研究似乎并未表明HpaI和Hind III多态性存在任何排他性的优先分离。
