Gene Scanning for Microdeletions in the Azoospermia Factor Region of Y-Chromosome in Infertile Men of Gujarat, India

Abstract

Introduction: Azoospermia Factor (AZF) microdeletions in Yq chromosome is one of the most frequent genetic cause associated with failure of spermatogenesis in males with infertility.

Aim: To figure out the Yq chromosome microdeletions frequency in infertile men from Gujarat region of India.

Materials and methods: In this study, 141 infertile men with azoospermia (n=41) and oligozoospermia (n=100) were examined along with 159 normozoospermic men. Eleven different markers spanning the azoospermia factor region of human Yq chromosome, amplified by sequence-tagged site Polymerase Chain Reaction (PCR) to detect the microdeletions. Sperm morphological analysis was done using papanicolau staining method.

Results: Thirty four infertile men out of 141 presented Yq chromosome microdeletions. The frequency of AZF microdeletions was 31.71% in azoospermia and 21% in oligozoospermia patients. Only two oligozoospermia patients showed morphological defects.

Conclusion: Due to the presence of high frequency of Yq chromosome microdeletions in Gujarati infertile men, it is imperative to implement the AZF microdeletion screening in such patients as it results in male spermatogenesis dysfunctioning.

Keywords: Male infertility; Sequence-tagged site polymerase chain reaction; Yq chromosome.

[Table/Fig-4]:

Electrophoretic pattern of microdeletions generated by amplification of DNA using AZFa STS specific primer: a) sY84; b) sY86. N: Normospermic semen samples, O: Oligospermic semen samples, A: Azoospermic blood samples and L: DNA Ladder (100 bp)

[Table/Fig-5]:

Electrophoretic pattern of microdeletions generated by amplification of DNA using sY121 (Lane 1 to 8), sY127 (Lane 9 to 16) and sY134 (Lane 17 to 19) AZFb STS specific primers. N: Normospermic semen samples, O: Oligospermic semen samples, A: Azoospermic blood samples and L: DNA Ladder (100 bp)

[Table/Fig-6]:

Electrophoretic pattern of microdeletions generated by amplification of DNA using sY153 (Lane 1 to 11) and sY255 (Lane 12 to 20) AZFc STS specific primers. N: Normospermic semen samples, O: Oligospermic semen samples, A: Azoospermic blood samples and L: DNA Ladder (100 bp)

[Table/Fig-7]:

Electrophoretic pattern of microdeletions generated by amplification of DNA using sY254. (Lane 1 to 12) and sY1191 (Lane 13 to 20) AZFc STS specific primers. N: Normospermic semen samples, O: Oligospermic semen samples, A: Azoospermic blood samples and L: DNA Ladder (100 bp)

[Table/Fig-8]:

Electrophoretic pattern of microdeletions generated by amplification of DNA using sY1291 (Lane 1 to 10) and sY1197 (Lane 11 to 17) AZFc STS specific primers. N: Normospermic semen samples, O: Oligospermic semen samples, A: Azoospermic blood samples and L: DNA Ladder (100 bp)