Mornet E, Boue J, Raux-Demay M, Couillin P, Oury J F, Dumez Y, Dausset J, Cohen D, Boué A
Hum Genet. 1986 Aug;73(4):358-64. doi: 10.1007/BF00279101.
The close genetic linkage between the gene for congenital adrenal hyperplasia due to 21-hydroxylase (21-OH) deficiency and HLA genes allowed us to use the polymorphism of this system as a marker of the disease. HLA genotyping can be performed by using restriction enzyme fragments hybridized with specific probes instead of serologic methods. In seven pregnancies at risk for 21-OH deficiency, a first trimester prenatal diagnosis has been performed by determining the fetal genotype by linkage analysis of DNA from chorionic villi using HLA class I and class II probes. In four of these pregnancies, determination of 17-OH progesterone in first trimester amniotic fluid afforded a complementary approach to the diagnosis.
由于21-羟化酶（21-OH）缺乏导致的先天性肾上腺皮质增生症基因与HLA基因之间存在紧密的遗传连锁关系，这使我们能够将该系统的多态性用作疾病的标志物。HLA基因分型可以通过使用与特定探针杂交的限制性酶切片段来进行，而不是采用血清学方法。在7例有21-OH缺乏风险的妊娠中，通过使用HLA I类和II类探针，对绒毛膜绒毛DNA进行连锁分析来确定胎儿基因型，从而在孕早期进行了产前诊断。在其中4例妊娠中，测定孕早期羊水17-羟孕酮为诊断提供了一种补充方法。
