[Study of AZF regions of Y chromosome in males with idiopathic infertility. Analysis of two methods of molecular diagnosis].
OBJECTIVE
It is well known that both azoospermia and oligozoospermia are associated to microdeletions of single tagged sites (STS) in the long arm of the Y chromosome. Characterization of deletions is carried out by polymerase chain reaction, although the number and regions included in the analysis varies between laboratories. The aim of this study was to analyze the presence of chromosome Y microdeletions using 2 different sets of STSs.


METHODS
We analysed the presence of microdeletions in the Yq chromosome in 30 patients with idiopathic male infertility, using 2 sets of STSs, those proposed by the European Molecular Genetics Quality Network (EMQN) as first choice and those of the Y Chromosome Deletion Detection System (Promega).


RESULTS
AZF microdeletions were detected in 4 patients (13%). Only one case was detected simultaneously with both sets.


CONCLUSIONS
In patients with idiopathic male infertility detection of AZF microdeletion in Y chromosome has important methodological problems. Further studies are needed to achieve a more reliable method to be used by clinical laboratories.
Isidoro-García
María
M
Departamento de Medicina, Universidad de Salamanca, Salamanca, Spain.
González-Sarmiento
Rogelio
R
Cordero
Mar
M
García-Macías
Carmen
C
Corrales-Hernández
Juan José
JJ
Miralles-García
José Manuel
JM
D041322:Chromosomes, Human, Y / Q000235:genetics*; D017353:Gene Deletion; D056426:Genetic Loci; D006801:Humans; D007248:Infertility, Male / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D025202:Molecular Diagnostic Techniques; D029589:Seminal Plasma Proteins / Q000235:genetics*
D029589:Seminal Plasma Proteins