Y Chromosome Microdeletion and Phenotype Correlates With Male Infertility in Gujarati Population

Shah, Parth; Shah, Nidhi; Shah, Sandip C; Patel, Tapan; Raval, Rutvik J; Dominic, Jeanny; Rao, Mandava V

doi:10.32677/ejms.2020.v05.i01.006

EJMS

2020

DOI: 10.32677/ejms.2020.v05.i01.006

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Y Chromosome Microdeletion and Phenotype Correlates With Male Infertility in Gujarati Population

Parth Shah¹,

Nidhi Shah²,

Sandip C Shah³

et al.

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“…Male infertility (MI) contributes about 50% of couples [1]. Genetic causes include chromosomal and Y chromosome microdeletion including gene mutations [2]. Keymolen et al [3] Xie et al [4], and Ching et al [5] documented that chromosomal translocations play a major role in causation of MI.…”

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A report on chromosomal translocation types in relation to male infertility

Shah¹,

Mistry²,

Kansara³

et al. 2022

Eastern J Med Sci

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Introduction: Male infertility (MI) in about 50% of couples is constituted due to genetic, hormonal, and epigenetic factors. Almost 10% of it is contributed to genetic anomalies. Objectives: This study was undertaken in 787 males with infertility and the impacts of the type of translocations in these cases were studied in relation to MI. Materials and Methods: Five milliliters (ml) of blood were drawn from referred cases suspected with MI and were used for cytogenetic analysis with Giemsa stain following International System for Human Cytogenetic Nomenclature. Results: Of 6142 referral cases, 787 were detected with MI (787/6142; 12.8%). Forty-four translocations (44/787; 5.6%) were detected in 787 infertile men. Other chromosomal abnormalities were 21% (167/787) in them. Among all translocations, an autosome-autosomal translocations were higher in frequency (24/787; 3.1%) than Robertsonian (15/787; 1.9%) and autogonosomal translocations (5/787; 0.6%). Few translocations seemed to be rare as our knowledge is concerned. Maharashtra had high frequency of translocations followed by Delhi union territory (UT) and Gujarat (07 each) and other states. Most of the translocations were related to infertility. Seven males had primary infertility (7/44) and six with secondary type (6/44) in this study. Conclusions: These reciprocal translocations are important in causation of infertility affecting testicular spermatogenesis. Few are rare in our study. Such cases are clinically suggested for counseling before adopting assisted reproductive technologies.

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mentioning

confidence: 99%

A report on chromosomal translocation types in relation to male infertility

Shah¹,

Mistry²,

Kansara³

et al. 2022

Eastern J Med Sci

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Incidence of Yq Microdeletion among Chattishgarh Population and Cast based distribution

Sinha,

Dada,

Patel

et al. 2024

National Journal of Clinical Anatomy

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Background: Millions of individuals in their reproductive years are affected by infertility on a global scale, potentially exerting a significant influence on their lives and family dynamics. The coexistence of abnormal seminogram and Yq microdeletion synergistically affects infertility. Therefore, the study was designed to determine the frequency of distribution of Yq microdeletion in abnormal semen parametric infertility cases. Methodology: Seventy-five cases of infertility and 78 controls with known fertility were enrolled for the cross-sectional study. In the collected blood sample, DNA was isolated and a polymerase chain reaction (PCR) mix for various markers was prepared. After running in a thermocycler, PCR products were analyzed by gel electrophoresis. Results: The distribution of deletion among different subtypes: azoospermic, severe oligozoospermic, oligozoospermic, and normozoospermic cases was 35%, 33%, 35%, and 33%, respectively. The most common deletion type in the Chhattisgarh population was azoospermia factor c. Caste-based distribution among the study group was quite uniform. Conclusion: Y chromosome microdeletion would be an essential test after seminogram in cases of male infertility, especially to prevent the transmission or inheritance of infertility to offspring. Due to the high frequency of microdeletions, it is a very useful test to identify male infertility in Chhattisgarh.

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Y Chromosome Microdeletion and Phenotype Correlates With Male Infertility in Gujarati Population

Cited by 2 publications

References 0 publications

A report on chromosomal translocation types in relation to male infertility

A report on chromosomal translocation types in relation to male infertility

Incidence of Yq Microdeletion among Chattishgarh Population and Cast based distribution

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