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2020, Number 1

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Rev Cub Gen 2020; 13 (1)

Frequency of Y chromosome microdeletions in Cuban patient with idiopathic azoospermia or oligozoospermia

Vital RE, Monteagudo PG, García HM, Marcheco TB, Collazo MT

Language: Spanish
References: 15
Page: 1-11
PDF size: 435.11 Kb.


ABSTRACT

Introduction: Microdeletion of the long arm of the Y chromosome is one of the most common genetic causes of male infertility. A high incidence has been estimated among azoospermics as compared to oligozoospermics, as well as a frequency of occurrence that ranges between 2% and 10%. As many as 95% of the clinically relevant deletions reported in the literature occur in a region known as azoospermia factor, and 80% of the deletions correspond to the AZFc region.
Objective: Determine the distribution frequency of microdeletions of the long arm of the Y chromosome.
Method: A study was conducted of 71 men with severe oligozoospermia or azoospermia attending various fertility services, particularly in Havana and Mayabeque. Molecular analysis of microdeletions in the AZF region were performed with the STS-PCR-Multiplex technique, using genomic DNA extracted from peripheral blood leukocytes. Analysis was carried out of each patient's known sequence sites for the regions AZFa, AZFb and AZFc.
Results: Of the total patients studied, 52 (73.2%) had azoospermia and 19 (26.8%) had severe oligozoospermia. Microdeletion in the AZFc region was diagnosed in two of the patients with azoospermia (2.8%).
Conclusions: The frequency of Y chromosome microdeletions in the patients studied is similar to that of other populations of different geographic and ethnic origins. The study highlights the importance of bearing in mind the diagnosis of microdeletions in the AZF region as a cause of male infertility, mainly in assisted reproduction candidates.


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