Low frequency of deletion alleles in patients with steroid 21-hydroxylase deficiency in a Mexican population |
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| Authors: | M T Tusié-Luna Salvador Ramírez-Jiménez Ma Luisa Ordóñez-Sánchez Javier Cabello-Villegas Nelly Altamirano-Bustamante Raúl Calzada-León Carlos Robles-Valdés Fernando Mendoza-Morfín Juan Pablo Méndez Margarita Terán-García |
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| Institution: | (1) Unidad de Genética de la Nutrición del Instituto de Investigaciones Biomédicas, Universidad Nacional Autónoma de México y del Instituto Nacional de Pediatría Mexico City, Apdo Postal 101-48, Mexico City, 04530 Fax: +52·5-606-3489; e-mail tusie@servidor.unam.mx, MX;(2) Servicio de Endocrinología del Instituto Nacional de Pediatría, Mexico City, Mexico, MX;(3) Departamento de Especialidades Médicas del Instituto Nacional de Pediatría, Mexico City, Mexico, MX;(4) Departamento de Endocrinología del Hospital General del Centro Medico Nacional “La Raza” del Instituto Mexicano del Seguro Social, Mecixo City, Mexico, MX;(5) Unidad de Investigación Medica en Biología del Desarrollo Hospital de Pediatria del Centro Médico Nacional Siglo XXI Instituto Mexicano del Seguro Social, Mexico City, Mexico, MX |
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| 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 acitve 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.
Received: 17 November 1995 / Revised: 29 February 1996, 12 April 1996 |
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