PDF(Pubmed)
Abstract：
Male infertility is a multifactorial condition that is closely associated with chromosomal abnormalities. Reciprocal chromosomal translocation (RCT) is a significant structural genetic abnormality. The specific mechanisms of forms of RCT affecting male infertility include the product of chromosomally unbalanced gametes, thereby disrupting the structure and function of important genes responsible for spermatogenesis. RCT breakpoints have been found to disrupt gene structure and function in many medical fields However, the relationship between RCT breakpoints and male infertility remains to be determined. The purpose of this study is to describe 2 male carriers of RCTs 46,XY,t(8;22)(q13;q13) and 46,XY,t(8;14)(q13;q22). Both patients were collected from the second hospital of Jilin University. Semen parameters were detected using the computer-aided semen analysis system. Cytogenetic analysis was performed using standard operating procedure. Related genes on chromosomal breakpoints were searched using Online Mendelian Inheritance in Man. One man had semen parameters within the normal range, but the couple was infertile after 5 years of marriage. The other man showed normal semen parameters, and his wife had experienced 2 spontaneous miscarriages. Using a literature search, the association between chromosome 22q13 breakpoint and fertility were investigated. The results suggest that physicians should focus on the clinical phenotype of the patients and the breakpoints of RCT in genetic counseling. An important gene related to human male infertility is clearly located in chromosome region 22q13, and its function is worthy of further study.
摘要：
男性不育是一种与染色体异常密切相关的多因素疾病。相互染色体易位(RCT)是一种显著的结构遗传异常。影响男性不育的RCT形式的特定机制包括染色体不平衡配子的产物，从而破坏负责精子发生的重要基因的结构和功能。在许多医学领域已经发现RCT断点破坏基因的结构和功能,RCT断点与男性不育之间的关系尚待确定.本研究的目的是描述2名男性RCTs46，XY，t(8；22)(q13；q13)和46，XY，t（8；14）（q13；q22）。两名患者均来自吉林大学第二医院。使用计算机辅助精液分析系统检测精液参数。使用标准操作程序进行细胞遗传学分析。使用人的在线孟德尔遗传搜索染色体断点上的相关基因。一个人的精液参数在正常范围内，但是这对夫妇结婚5年后不孕。另一个人精液参数正常,他的妻子经历了两次自然流产。通过文献检索，研究了染色体22q13断点与生育力之间的关系。结果提示医师在遗传咨询中应关注患者的临床表型和RCT的断点。与人类男性不育有关的重要基因明显位于染色体区域22q13，其功效值得进一步研讨。
