Assessment of 21-hydroxylase deficiency: Prenatal diagnosis by molecular typing of DRB and TNF loci
- Book ID
- 116114338
- Publisher
- Elsevier Science
- Year
- 1995
- Tongue
- English
- Weight
- 96 KB
- Volume
- 44
- Category
- Article
- ISSN
- 0198-8859
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The feasibility and accuracy of gene-specific molecular genetic diagnosis for congenital adrenal hyperplasia due to 21-hydroxylase deficiency was studied in a group of 24 pregnancies at 25% risk of carrying an affected fetus. Chorionic villus sampling was performed at 9-10 weeks' gestation. Southern
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
The polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) profile analysis could be applied to the prenatal diagnosis of steroid 21-hydroxylase deficiency. We designed PCR primers to amplify most of the 21-hydroxylase gene, including all the mutations previously reported. PCR-