The mutations caused steroid 21-hydroxylase deficiency on a patient with symptom of c-SW
- Author:
Rita Bernhardt
- Publication Type:Journal Article
- Keywords:
21-hydroxylase, congenital adrenal hyperplasia
- MeSH:
mutation;
deficiency;
Adrenal Hyperplasia, Congenital;
Steroid 21-Hydroxylase
- From:Journal of Medical Research
2003;23(3):109-113
- CountryViet Nam
- Language:Vietnamese
-
Abstract:
Studying on a patient with symptom of congenital adrenal hyperplasia-SW related to mutations caused steroid 21-hydroxylase deficiency at National Institute of Pediatrics. In this article, the DNA sequence results of a patient with CAH (salt wasting variation) and his family members had been described. This patient, have been inherited all mutations from his parents including gene mutation 12 (nt656)G, deplete 8bp(exon3) from his father and gene mutation 12 (nt656)G/G homozygote from his mother. All his family members have been CPY 21 gene with different types: his father had mutation of heterozygote on codon 30; his mother had mutation of heterozygote on nucleotide 656.
