海南地区3353例遗传咨询者细胞遗传学分析  

Cytogenetic analysis of 3353 genetic consultants in hainan area

作　　者：陈运春 王祥丰 许玉妮 曹晓强 郑春娇 林丽英 胡建东[1] CHEN Yun-chun;WANG Xiang-feng;XU Yuni;CAO Xiao-qiang;ZHENG Chun-jiao;LIN Li-ying;HU Jian-dong(Haikou Branch of Yue yang Integrative Medicine Hospital Affiliated to Shanghai University of Traditional Chinese Medicine,Hainan Haikou,570216,China;Second Affiliated Hospital of Hainan Medical University,Hainan Haikou,570311,China)

机构地区：[1]上海中医药大学附属岳阳中西医结合医院海口分院(海口市中医医院),海口海南570216 [2]海南医学院第二附属医院,海口570311

出　　处：《中国优生与遗传杂志》2019年第7期827-829,817,共4页Chinese Journal of Birth Health & Heredity

摘　　要：目的对3353例各种不明原因生育畸形儿、缺陷儿、不孕不育、智力低下、原发性闭经、性别不明等而行遗传咨询的人群行细胞遗传学分析并进一步分析探讨。方法取患者肝素钠抗凝血约1.5ml行外周血细胞培养染色体分析,北昂染色体核型分析系统采图分析3^5个核型,视情况加做C显带或者N显带分析。结果检出354例染色体核型异常者,总异常检出率10.5%(353/3353),其中1号染色体28%(100/353),9号染色体17.5%(62/353),21号染色体16.4%(58/353),检出率为零的染色体号为:17,18。结论行遗传咨询的人群中染色体异常检出率高也说明了和患者临床表现的相关性,需重视细胞遗传学分析,及时检出异常者,有助于优生优育和对遗传病的早期干预并及时诊治处理。Objective:Cytogenetic analysis and further analysis were performed on 3353 cases of people who received genetic counseling for various unknown reasons,such as birth of teratogenic children,defective children,infertility,mental retardation,primary amenorrhea,and gender uncertainty. Methods:In patients with heparin anticoagulant is about 1.5 ml peripheral blood cell culture,chromosome analysis,north,chromosome karyotype analysis system in figure 3 ^ 5 karyotype,depending on the situation and do C banding or N banding analysis. Results:Chromosome karyotype abnormality was detected in354 cases,total abnormal detection rate was 10.5%(353/3353),Chromosome 1 was 28%(100/353),Chromosome 9 was17.5%(62/353),chromosome 21 was 16.4%(58/353),and the number with zero detection rate was:17,18. Conclusion:The high detection rate of chromosomal abnormalities in the population receiving genetic counseling also indicates the correlation with the clinical manifestations of patients. It is necessary to pay attention to cytogenetic analysis and timely detect abnormalities,which is conducive to eugenics and eugenics as well as early intervention and timely diagnosis,treatment and treatment of genetic diseases.

关 键 词：细胞遗传学 不孕不育人群 染色体核型分析 检出率 

分 类 号：R726.2[医药卫生—儿科]