Matsumoto T, Kondoh T, Kamei T, Yoshimoto M, Tsuji Y, Suzumori K, Izumi R, Iwatani N, Niikawa N
Department of Human Genetics, Nagasaki University School of Medicine, Japan.
Eur J Pediatr. 1988 Dec;148(3):228-32. doi: 10.1007/BF00441409.
Prenatal diagnosis of 21-hydroxylase deficiency (21-OHD) in two unrelated embryos and two fetuses was attempted with the Southern hybridization method using the 21-hydroxylase (21-OHase) complementary DNA as a probe. The two embryos whose genomic DNA was extracted from their chorionic villi both had four TaqI fragments (3.7 kb, 3.2 kb, 2.4 kb and 2.3 kb) identical to those of their respective parents and normal controls, while the DNA from each proband of these two families lacked with the 3.7 kb and the 2.3 kb fragments corresponding to the functional 21-OHase gene (21-OHase B gene). These findings indicated that none of the embryos examined were deletion homozygotes for the 21-OHase B gene. In the two fetuses, only amniotic fluid cells were available for prenatal diagnosis. The results of Southern hybridization analysis were uninformative since all family members, including the probands and fetuses, had all four TaqI fragments. Linkage studies between 21-OHD and human leukocyte antigen (HLA) haplotypes and those between the disease and restriction fragment length polymorphisms of the 4th complement gene revealed that the fetus of one family was normal. The other fetus could not be diagnosed because a recombination between the class I HLA and the 21-OHD loci had occurred in this family.
尝试使用21-羟化酶（21-OHase）互补DNA作为探针，通过Southern杂交法对两个不相关的胚胎和两个胎儿进行21-羟化酶缺乏症（21-OHD）的产前诊断。从其绒毛膜绒毛中提取基因组DNA的两个胚胎，均具有与各自父母及正常对照相同的四个TaqI片段（3.7 kb、3.2 kb、2.4 kb和2.3 kb），而这两个家族的每个先证者的DNA均缺乏与功能性21-OHase基因（21-OHase B基因）相对应的3.7 kb和2.3 kb片段。这些发现表明，所检查的胚胎均不是21-OHase B基因的缺失纯合子。在这两个胎儿中，仅羊水细胞可用于产前诊断。由于包括先证者和胎儿在内的所有家庭成员均具有所有四个TaqI片段，因此Southern杂交分析结果无信息价值。21-OHD与人类白细胞抗原（HLA）单倍型之间的连锁研究以及该疾病与第4补体基因的限制性片段长度多态性之间的连锁研究表明，一个家族的胎儿是正常的。另一个胎儿无法诊断，因为该家族中I类HLA与21-OHD基因座之间发生了重组。
