The deficiency of 21-hydroxylase as a paradigm of segregation analysis
โ Scribed by Norikazu Yasuda; Nobuchika Saito
- Publisher
- Nature Publishing Group
- Year
- 1980
- Tongue
- English
- Weight
- 284 KB
- Volume
- 25
- Category
- Article
- ISSN
- 1435-232X
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Prenatal diagnosis of 21-hydroxylase deficiency (21-OHD) in two unrelated embryos and two fetuses was attempted with the Southern hybridization method using the 21hydroxylase (21-OHase) complementary DNA as a probe. The two embryos whose genomic D N A was extracted from their chorionic villi both ha
Congenital adrenal hyperplasia due to 21hydroxylase deficiency is a common autosomal-recessive disorder. During our routine genotyping of affected individuals and their relatives using allele-specific oligonucleotide hybridization and single-strand conformational polymorphism analysis, we identified
We report on the prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase in 20 at-risk pregnancies (16 salt-wasting and 4 simple virilizing families). We have diagnosed 3 affected fetuses (2 males and 1 female), 3 healthy homozygotes (2 males and 1 female), and 14 healthy heterozy