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机构地区:[1]新疆自治区人民医院妇产科研究室,乌鲁木齐830001
出 处:《国际遗传学杂志》2015年第6期302-305,共4页International Journal of Genetics
摘 要:目的探讨反复自然流产与染色体异常的关系。方法抽取279对反复自然流产夫妇的外周血进行淋巴细胞培养,运用染色体G显带技术进行核型分析,对每例患者的标本显微镜下计数30个核型,并镜下分析其中的5个核型,异常者加倍计数分析。结果279对反复自然流产夫妇中,检出染色体异常核型151例,异常检出率为27.1%,其中常染色体结构异常18例,占异常核型12%,包括易位11例,倒位5例,染色体增加片段1.例,染色体缺失片段1例;染色体多态性变异133例,占异常核型88.1%,包括Y染色体多态性变异108例,占71.5%,其他染色体多态性变异25例,占16.6%。结论Y染色体多态性变异是导致反复自然流产的重要遗传因素,染色体平衡易位、倒位、多态与反复自然流产有一定的关联,应进一步去探讨其内在的相互关系,为遗传咨询,优生优育提供更加可靠的依据。Objective To analyze the correlation of abnormal karyotypes with recurrent spontaneous abortion. Methods The chromosomal karyotypes were examined in 279 couples with spontaneous abortion history by using peripheral blood lymphocyte culture and G banding. Results 151 cases of 279 couples were abnormal in karyotype, with an abnormal rate of 27. 1%. Among them, there were 12% chromosome structural aberrations ( 18/151 ) including 11 translocations, five inversions, one 'insertion and one deletion and 88. 1% chromosome polymorphism (133/151) consisting of 108 Y chromosome and 25 other chromosome variations. Conclusion Y chromosome polymorphism is a significant genetic factor resulting in recurrent spontaneous abortion. Additionally, the balanced translocation, inversion and polymorphism 'also have correlations with spontaneous abortion. Their correlations should be further studied to provide reliable data for genetic counseling and eugenics.
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