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ISSN 2070-8718 (Print)

2017, Number 3

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Rev Cub Gen 2017; 11 (3)

Introduction of the molecular study of Yq chromosome microdeletion in Cuban men with idiopathic azoospermia or oligozoospermia

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

Language: Spanish
References: 18
Page: 32-37
PDF size: 332.04 Kb.


ABSTRACT

Infertility affects around 15% of the couples all over the world, 50% of cases are associated to male’s factor. The Yq chromosome microdeletion is the second most frequent genetic cause, with an incidence of 2% to 10% at the level global. Our main goal was to standardize the molecular diagnosis the Yq chromosome microdeletion in the DNA lab. In the present study we carried out an observational, descriptive and transversal investigation hospital based. The universal and population of study was constituted by twenty-two patients with non-obstructive azoospermia and severe oligozoospermia of unknown origin that were attended by the national reference infertility consultation at the National Institute of Endocrinology in the period November 2016-June 2017. The molecular analysis was standardized by STS-PCR-Multiplex technique and was verified by electrophoresis in 2% agarose gels. We were able of standardizing the diagnosis technique but we did not found the mutation in any patient. Its diagnosis has become a routine test when studying men with severe masculine factor before starting to use techniques for assisted reproduction and as part of the genetic counseling process for the infertile couple.


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