Abstract
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is a disorder with different clinical manifestations, that results from mutations in the P-450(c21) gene. Direct sequence analysis of P-450(c21) genes in a family demonstrates that patients with different clinical forms of congenital adrenal hyperplasia can have identical P-450(c21) genes, suggesting that other effects play a role in developing the different clinical forms.
MeSH terms
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Adrenal Hyperplasia, Congenital / enzymology
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Adrenal Hyperplasia, Congenital / genetics*
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Bacterial Proteins*
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Base Sequence
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Blotting, Southern
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Child
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Chromosome Deletion
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DNA / chemistry
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Deoxyribonucleases, Type II Site-Specific
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Exons
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Female
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Humans
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Infant, Newborn
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Male
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Molecular Sequence Data
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Mutation
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Pedigree
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Polymerase Chain Reaction
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Promoter Regions, Genetic
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Steroid 21-Hydroxylase / genetics*
Substances
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Bacterial Proteins
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DNA
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Steroid 21-Hydroxylase
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BglII endonuclease
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Deoxyribonucleases, Type II Site-Specific
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TCGA-specific type II deoxyribonucleases