染色体易位类型与男性不育的关系

Nidhi Shah, K. Mistry, Mudra H Kansara, K. Sonali, Nirali Thakkar, Parth Shah, Sandip C. Shah, M. V. Rao
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引用次数: 0

摘要

简介:男性不育(MI)在约50%的夫妇是由遗传、激素和表观遗传因素构成的。其中近10%是由基因异常造成的。目的:本研究对787例男性不孕症患者进行了研究,并研究了这些病例中易位类型对心肌梗死的影响。材料和方法:从疑似心肌梗死的病例中抽取5毫升血液,根据国际人类细胞遗传学命名法,用吉姆萨染色法进行细胞遗传学分析。结果:6142例转诊病例中,787例检出心肌梗死(787/6142;12.8%)。44位易位(44/787;787例不育男性中检出5.6%)。其他染色体异常占21%(167/787)。在所有易位中,常染色体-常染色体易位的频率较高(24/787;3.1%)比罗伯逊(15/787;1.9%)和同性腺体易位(5/787;0.6%)。据我们所知,很少有易位发生。马哈拉施特拉邦的人口迁移频率最高,其次是德里联邦地区(UT)和古吉拉特邦(各07人)和其他邦。大多数易位与不孕有关。本组男性原发性不育症7例(7/44),继发性不育症6例(6/44)。结论:这些相互易位在影响睾丸精子发生的不育原因中起重要作用。在我们的研究中,很少是罕见的。临床建议在采用辅助生殖技术前进行咨询。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A report on chromosomal translocation types in relation to male infertility
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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