Molecular genetic analysis of patients carrying steroid 21-hydroxylase deficiency in the Mexican population: identification of possible new mutations and high prevalence of apparent germ-line mutations
| Autor: | Mabel Cerrillo-Hinojosa, Nelly Altamirano-Bustamante, Carlos Robles-Valdés, María Teresa Tusié-Luna, Raúl Calzada-León, Antonio Ulises López-Gutierrez, F. Mendoza-Morfin, María Luisa Ordóñez-Sánchez, Salvador Ramírez-Jiménez, Salvador Gamboa-Cardiel, Laura Riba |
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| Rok vydání: | 1998 |
| Předmět: |
Male
Genotype DNA Mutational Analysis Mutant Biology medicine.disease_cause Polymerase Chain Reaction Germline Prevalence Genetics medicine Humans Point Mutation Congenital adrenal hyperplasia Genetic Testing Allele Mexico Gene Germ-Line Mutation Genetics (clinical) Mutation Adrenal Hyperplasia Congenital Sequence Analysis DNA medicine.disease Phenotype Female Steroid 21-Hydroxylase |
| Zdroj: | Human Genetics. 102:170-177 |
| ISSN: | 1432-1203 0340-6717 |
| DOI: | 10.1007/s004390050672 |
| Popis: | Steroid 21-hydroxylase deficiency is the underlying cause in over 90% of patients with congenital adrenal hyperplasia, an inherited metabolic disorder of adrenal steroidogenesis. We have characterized 94 mutant alleles from 47 unrelated Mexican patients and the corresponding mutant alleles in their parents by amplification of the functional CYP21 gene by PCR, followed by direct sequence analysis. The study included patients diagnosed with the three clinical forms of the disease. Our results revealed: (1) the presence of relatively few mutations or combinations of mutations associated with particular phenotypes; (2) the presence of putative new mutations; (3) the finding of identical genotypes in patients displaying discordant phenotypes; (4) the identification of patients lacking all previous reported mutations; and (5) an apparent high frequency of germ-line mutations. The absence of previously reported mutations in about 22% of the disease alleles, the finding of putative new mutations in some of the patients lacking previously known mutations, and the apparent high prevalence of germ-line mutations make evident the differences in the genetic background leading to this disorder between the Caucasian and the Mexican populations. |
| Databáze: | OpenAIRE |
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