Y chromosome micro-deletions in idiopathic infertility from Northern India

Azoospermia factor locus (AZF) is assumed to contain the genes responsible for spermatogenesis. Deletions in these genes are thought to be pathologically involved in some cases of male infertility associated with azoospermia or oligozoospermia. An attempt was made to establish the prevalence of micr...

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Bibliographic Details
Published in:Annales de génétique 2004-10, Vol.47 (4), p.331-337
Main Authors: Mittal, Rama Devi, Singh, Gunjana, Srivastava, Aneesh, Pradhan, Mandakini, Kesari, Akanchha, Makker, Annu, Mittal, Balraj
Format: Article
Language:English
Subjects:
Azoospermia factor
Biological and medical sciences
Birth control
Chromosome aberrations
Chromosome Deletion
Chromosomes, Human, Y - genetics
DNA - genetics
General aspects. Genetic counseling
Genetic Loci
Gynecology. Andrology. Obstetrics
Humans
India
Infertile male
Male
Medical genetics
Medical sciences
Micro-deletion
Oligospermia - genetics
Polymerase Chain Reaction
Seminal Plasma Proteins - genetics
Sex Chromosome Aberrations
Sterility. Assisted procreation
STS primers
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Summary:Azoospermia factor locus (AZF) is assumed to contain the genes responsible for spermatogenesis. Deletions in these genes are thought to be pathologically involved in some cases of male infertility associated with azoospermia or oligozoospermia. An attempt was made to establish the prevalence of micro-deletions on the Y chromosome in 79 infertile North Indians with azoospermia and oligozoospermia. Detail clinical examinations as well as endocrinological parameters were also done. Polymerase chain reaction (PCR) micro-deletion analysis was done in 79 infertile men. For this, genomic DNA was extracted from the peripheral blood. Seven sets of primers were used encompassing AZFa, AZFb and AZFc regions. Micro-deletions in five of the 79 cases (6.3%) showed deletions of at least one of the STS markers. Deletions were detected with known and unknown aetiology and at least in one of the infertile male with varicocele. AZF micro-deletions seen in idiopathic infertile males suggest the need for molecular screening in non-idiopathic cases.
ISSN:0003-3995
DOI:10.1016/j.anngen.2004.05.003