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目的通过对淄博市不孕不育夫妇细胞遗传学检查研究,探讨淄博地区不孕不育遗传学特点,为不孕不育的治疗提供科学依据。方法回顾性调查1996—2008年4 026例不孕不育患者,研究其细胞遗传学方面的检查:取外周血染色体培养、细胞收获、制片及G显带,每位患者计数33个分裂相,分析3个以上核型并进行显微照相。结果检出异常核型203例,异常核型检出率为5.04%,其中女136例,男67例。异常核型分类为:常染色体异常核型130例,其中相互易位核型81例,臂间倒位核型49例;性染色体异常核型59例,其中X染色体异常35例,Y染色体异常24例;其他结构异常14例。结论染色体异常核型是导致不孕不育的重要因素之一,对不孕不育患者进行细胞遗传学分析,可为临床病因诊断提供可靠依据,也为临床医学与基础医学的研究找到切入点。
Objective To study the cytogenetics of infertile couples in Zibo city and to explore the genetic characteristics of infertility in Zibo area to provide a scientific basis for the treatment of infertility. Methods A retrospective survey of 4,026 infertility patients from 1996 to 2008 was conducted to investigate cytogenetics. Chromosome culture, cell harvest, and G-banding were performed on peripheral blood. 33 patients were divided per patient , Analyzing more than three karyotypes and performing photomicrographs. Results 203 cases were detected abnormal karyotype, the detection rate of abnormal karyotype was 5.04%, of which 136 were female and 67 were male. Abnormal karyotypes were categorized as follows: 130 cases of autosomal abnormality karyotype, of which 81 cases were reciprocal translocation karyotype and 49 cases were inverted arm arm; 59 cases were sex chromosome abnormal karyotype, including 35 cases of X chromosome abnormality, Y chromosome abnormality 24 cases; other structural abnormalities in 14 cases. Conclusions Chromosome abnormality karyotype is one of the most important factors leading to infertility. Cytogenetic analysis of infertility patients can provide a reliable basis for the diagnosis of clinical etiology, and find entry points for the study of clinical medicine and basic medicine .