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

Abstract

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.

• Authors: E Mornet, J Boue, M Raux-Demay, P Couillin, J F Oury, Y Dumez, J Dausset, D Cohen, A Boué
• Journal: Human genetics (Hum Genet) Vol. 73 Issue 4 Pg. 358-64 (Aug 1986) ISSN: 0340-6717 [Print] Germany
• PMID: 3017844 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Genetic Markers
• HLA Antigens
• Hydroxyprogesterones
• 17-alpha-Hydroxyprogesterone
• DNA
• Steroid Hydroxylases
• Steroid 21-Hydroxylase
• DNA Restriction Enzymes

Topics

• 17-alpha-Hydroxyprogesterone
• Adrenal Hyperplasia, Congenital (diagnosis)
• Chorionic Villi (analysis)
• DNA (genetics)
• DNA Restriction Enzymes
• Female
• Fetal Diseases (diagnosis)
• Genetic Linkage
• Genetic Markers
• HLA Antigens (genetics)
• Humans
• Hydroxyprogesterones (analysis)
• Pregnancy
• Pregnancy Trimester, First
• Prenatal Diagnosis
• Radioimmunoassay
• Steroid 21-Hydroxylase (genetics)
• Steroid Hydroxylases (deficiency)