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Idiopathic cases of male infertility from a region in India show low incidence of Y-chromosome microdeletion

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Abstract

Chromosomal and Y-chromosomal microdeletion analysis has been done in cases of idiopathic infertility with the objective of evaluating the frequency of chromosomal and molecular anomaly as the causal factor of infertility. Barring a few cases of Klinefelter syndrome (XXY or XY/XXY mosaics), no chromosomal anomaly was encountered. Y-microdeletion was analysed by PCR-screening of STSs from different regions of the AZF (AZFa, AZFb, AZFc) on the long arm of the Y, as well as by using DNA probes of the genes RBM, DAZ (Yq), DAZLA (an autosomal homologue of DAZ) and SRY (Yp; sex determining gene). Out of 177 cases examined, 9 (azoospermia -8 and oligoasthenospermia -1) showed partial deletion of AZF. The size of deletion varied among patients but AZFc was either totally or partially removed in all of them. In contrast, no deletion was detected in AZFa. Testis biopsy done on a limited number of cases (50) showed diverse stages of spermatogenic arrest with no specific correlation with the genotype. The frequency of Y-chromosome microdeletion in our samples (∼ 5%) is much lower than the frequency (∼ 10%) reported globally and the two previous reports from India. We contend that the frequency may be affected by population structures in different geographical regions.

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Abbreviations

AZF:

Azoospermia factor

DAZ:

deleted in azoospermia

FSH:

follicle stimulating hormone

KFS:

Klinefelter syndrome

PCR:

polymerase chain reaction

SCO:

Sertoli cell only

STS:

sequence tagged site

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Authors and Affiliations

  1. Cytogenetics Laboratory, Department of Zoology, Banaras Hindu University, 221 005, Varanasi, India

    R. Ambasudhan, K. Singh, J. K. Agarwal, S. K. Singh, A. Khanna, R. K. Sah, I. Singh & R. Raman

  2. Department of Endocrinology, Banaras Hindu University, 221 005, Varanasi, India

    J. K. Agarwal & S. K. Singh

  3. Department of Surgery, Institute of Medical Sciences, Banaras Hindu University, 221 005, Varanasi, India

    A. Khanna

  4. Urology and Infertility Clinic, Sah Nursing Home, 221 005, Varanasi, India

    R. K. Sah

  5. Soorya Meditech Hospital and Research Centre, 221 005, Varanasi, India

    I. Singh

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  1. R. Ambasudhan
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  2. K. Singh
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  3. J. K. Agarwal
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  4. S. K. Singh
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  5. A. Khanna
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  6. R. K. Sah
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  7. I. Singh
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  8. R. Raman
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Correspondence to R. Raman.

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Ambasudhan, R., Singh, K., Agarwal, J.K. et al. Idiopathic cases of male infertility from a region in India show low incidence of Y-chromosome microdeletion. J. Biosci. 28, 605–612 (2003). https://doi.org/10.1007/BF02703336

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