[Y chromosome micro-deletion identification in infertile males]

Itzel Eevelyn Calleja Macías, Sandra Guadalupe Martínez Garza, Mayra Celina Gallegos Rivas, Rocío Ortíz López, Lauro Gómez Guerra, Hugo A Barrera Saldaña, Antonio M Gutiérrez Gutiérrez
Ginecología y Obstetricia de México 2003, 71: 25-31

UNLABELLED: Identifying the genetic causes of male infertility is very important, considering they account for 30-50% of reproductive problems among couples. Genetic abnormalities, among which Y chromosome microdeletions are found, are commonly detected in patients with non-obstructive azoospermia (0-4.3%). Most of these patients are eligible for intracytoplasmic sperm injection (ICSI) and this genetic defect can be inherited by male children.

OBJECTIVE: Determining the prevalence of microdeletions in the Y chromosome in a group of Mexican patients presenting azoospermia and oligospermia, under treatment in the Infertility Clinics.

MATERIALS AND METHODS: This study included 52 infertile men (cases): 36 with non-obstructive azoospermia, and 16 with oligospermia; and 50 men (controls) whose fertility had been validated. The genomic DNA of each individual was obtained from his EDTA and heparin treated blood, and the corresponding karyotype determined. The karyotype was analyzed using G banding techniques. Eighteen markers (STS) corresponding to the chromosome Y long arm (AZFa, b, c, and d zones) were amplified in each DNA sample in all cases--azoospermic, oligospermic and controls--using the PCR method.

RESULTS: No chromosomal alterations were detected in the patients, and no Y chromosome microdeletions were detected in control cases. Five azoospermic patients (13.9%) presented microdeletions corresponding to the AZFb, c, and d zones, while no microdeletions were found in oligospermic patients. The frequency of microdeletions found in this study is very similar to that reported for other populations.

CONCLUSIONS: This research not only reports the frequency of microdeletions in the Y chromosome in our population, but also contributes to the integration of a DNA bank for patients with idiopathic male infertility, which will be of great use in the search for the causes of this affection.

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