First trimester assessment of 21-hydroxylase deficiency by TaqI HLA-B and -DRB linkage analysis

First trimester prenatal diagnosis of 21

First trimester prenatal diagnosis of 21-hydroxylase deficiency by linkage analysis to HLA-DNA probes and by 17-hydroxyprogesterone determination

✍ E. Mornet; J. Boué; M. Raux-Demay; P. Couillin; J. F. Oury; Y. Dumez; J. Dausset 📂 Article 📅 1986 🏛 Springer 🌐 English ⚖ 961 KB

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 spe