title: Low frequency of deletion alleles in patients with steroid 21-hydroxylase deficiency in a Mexican population.
abstract: Steroid 21-hydroxylase deficiency is caused by mutations in the CYP21 gene. Approximately 95% of mutant alleles are generated by recombination events between the active gene CYP21 and its highly homologous pseudogene, CYP21P. Deletion alleles are generated by unequal crossing over, while point mutations are the result of gene conversion events. Deletions account for 20-25% of the 21-hydroxylase deficiency alleles in most populations studied. We have looked for deletions among 53 unrelated Mexican patients with steroid 21-hydroxylase deficiency and found that deletions represent less than 1% of the disease alleles. These findings suggest that nearly all mutant alleles in our patient population contain point mutations and that the low representation of deletion alleles among clinically diagnosed patients may be due to missing detection of salt wasters, mainly males, who may die during the neonatal period.
authors.affiliation: Unidad de Genética de la Nutrición del Instituto de Investigaciones Biomédicas, Universidad Nacional Autónoma de México, Mexico City 04530, USA. tusie@servidor.unam.mx
authors.forename: M T
authors.initials: MT
authors.lastname: Tusié-Luna
authors.forename: S
authors.initials: S
authors.lastname: Ramírez-Jiménez
authors.forename: M L
authors.initials: ML
authors.lastname: Ordóñez-Sánchez
authors.forename: J
authors.initials: J
authors.lastname: Cabello-Villegas
authors.forename: N
authors.initials: N
authors.lastname: Altamirano-Bustamante
authors.forename: R
authors.initials: R
authors.lastname: Calzada-León
authors.forename: C
authors.initials: C
authors.lastname: Robles-Valdés
authors.forename: F
authors.initials: F
authors.lastname: Mendoza-Morfín
authors.forename: J P
authors.initials: JP
authors.lastname: Méndez
authors.forename: M
authors.initials: M
authors.lastname: Terán-García
mesh_terms: D000312:Adrenal Hyperplasia, Congenital; D000483:Alleles; D001426:Bacterial Proteins; D001483:Base Sequence; D015139:Blotting, Southern; D004247:DNA / Q000378:metabolism; D004259:DNA-Directed DNA Polymerase / Q000378:metabolism; D015252:Deoxyribonucleases, Type II Site-Specific / Q000378:metabolism; D017353:Gene Deletion; D005787:Gene Frequency; D006579:Heterozygote; D006801:Humans; D008800:Mexico; D008969:Molecular Sequence Data; D013255:Steroid 21-Hydroxylase / Q000235:genetics*; D019914:Taq Polymerase
chemical_list: D001426:Bacterial Proteins; D004247:DNA; D013255:Steroid 21-Hydroxylase; D019914:Taq Polymerase; D004259:DNA-Directed DNA Polymerase; C024404:BglII endonuclease; D015252:Deoxyribonucleases, Type II Site-Specific