[Molecular analysis of microdeletions of the Y chromosome in Venezuelan males with idiopathic infertility].
Today infertility is a major health problem affecting about 10-20% of couples. A male factor is assumed to be responsible in about 50% of the infertile couples. The origin of reduced testicular sperm function is unknown in about 60-70% of cases. There are several causes of male infertility such as varicocele, spermatic duct obstruction, and endocrine disorders. Micro-deletions in the Yq are known to represent the pathogenic mechanisms for infertile males. Three different non-overlapping regions designated as AZFa, AZFb, and AZFc are located in interval 5-6 of Yq, and are associated with impaired spermatogenesis in humans. To determine the prevalence of Y chromosomal microdeletions in Venezuelan males with idiopathic infertility, chromosomal, seminal, histological and molecular analyses were carried out in 29 Venezuelan males with idiopathic azoospermia or oligoospermia. Y-microdeletions analyses were performed using a multiplex polymerase chain reaction (PCR)-based technique with 22 sequences-tagged-sites (STSs). One of 29 patients (3.4%) had Yq microdeletions on AZFc. The frequency of AZF microdeletions in Venezuelan patients was similar to other populations with different ethnical or geographical origin.
Fernández-Salgado
Erika
E
Instituto de Investigaciones Clínicas Dr. Am6rico Negrette, Facultad de Medicina, Universidad del Zulia, Maracaibo, Venezuela. erfernandez@luz.edu.ve
Alvarez-Nava
Francisco
F
Borjas-Fajardo
Lisbeth
L
Osuna
Jesús
J
Gómez
Roald
R
Zabala
William
W
Zambrano
Mariana
M
Portillo-M
María Gabriela
MG
D053713:Azoospermia / Q000235:genetics; D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y / Q000235:genetics*; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D016133:Polymerase Chain Reaction / Q000379:methods; D016324:Sequence Tagged Sites; D014687:Venezuela