99例异常染色体核型分析  

99 Cases of Abnormal Chromosome Karyotype Analysis

作　　者：穆汇 欧明林[2] 汤冬娥 张若菡 何慧燕 梁灼健 邹贵勉 戴勇[3] MU Hui;OU Minglin;TANG Dong’e;ZHANG Ruohan;HE Huiyan;LIANG Zhuojian;ZOU Guimian;DAI Yong(College of Life Sciences,Guangxi Normal University,Guilin Guangxi 541006,China;NephrologyDepartment of Guilin No. 181 Hospital,Guangxi Key Laboratory of Metabolic Diseases Research,GuilinGuangxi 541002,China;Clinical Medical Research Center,the Second Clinical Medical College of Jinan University,Shenzhen Guangdong 518020,China)

机构地区：[1]广西师范大学生命科学学院,广西桂林541006 [2]中国人民解放军第181医院肾脏科全军器官移植与透析治疗中心广西代谢性疾病研究重点实验室,广西桂林541002 [3]暨南大学第二临床医学院(深圳市人民医院)临床医学研究中心,广东深圳518020

出　　处：《广西师范大学学报（自然科学版）》2019年第1期205-210,共6页Journal of Guangxi Normal University:Natural Science Edition

基　　金：广西科技计划(桂科攻1598012-25);广东省科技计划(2017B020209001)

摘　　要：为了探讨外周血染色体和羊水染色体核型异常与疾病的关系并进行相关临床分析,收集2016年6—12月到中国人民解放军第181医院就诊的疑似有染色体病的患者1 868例,以及在深圳市人民医院就诊并自愿抽取羊水进行产前诊断的孕妇541名,通过常规方法制备染色体标本,进行染色体G显带核型分析。结果:共发现特别异常外周血染色体核型15例;胎儿染色体核型异常84例,阳性率为15.52%。这99例异常染色体核型表明染色体检查可以及时发现相关的染色体病,可以更加明确其遗传学诊断,避免盲目治疗,有效减少染色体异常患儿的出生。To discuss the abnormalities in peripheral blood chromosomal karyotypes and amniotic fluid karyotypes,as well as their application in clinical analysis.Peripheral blood G-banding technique was used to analyze the chromosomal karyotypes of the genetic counseling patients from181st Hospital of Chinese People’s Liberation Army and Shenzhen People’s Hospital.1868samples of peripheral blood and541samples of amniotic fluid were collected for the preparation of chromosome specimens.15abnormal karyotypes of peripheral blood were found in peripheral blood chromosomes.84abnormal karyotypes were found in amniotic fluid chromosome with the screeing positive rate of15.52%.There are99cases of abnormal chromosome karyotypes.The results showed that Chromosome examination can detect some related chromosome diseases timely,in order to identify its genetic diagnosis more clearly,avoid blind treatment,and reduce the birth of children with chromosomal abnormalities effectively.

关 键 词：染色体核型分析 染色体异常 产前诊断 染色体检查 

分 类 号：Q343[生物学—遗传学]