广西师范大学学报（自然科学版） ›› 2019, Vol. 37 ›› Issue (1): 205-210.doi: 10.16088/j.issn.1001-6600.2019.01.024

• 第二十四届全国信息检索学术会议专栏 • 上一篇    下一篇

99例异常染色体核型分析

穆汇1, 欧明林2, 汤冬娥3, 张若菡2, 何慧燕3, 梁灼健3, 邹贵勉1,2, 戴勇3*   

  1. 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
  • 收稿日期:2017-11-28 出版日期:2019-01-20 发布日期:2019-01-08
  • 通讯作者: 戴勇(1962—),男,湖北恩施人,暨南大学第二临床医学院教授,博士。E-mail: daiyong2222@gmail.com
  • 基金资助:
    广西科技计划(桂科攻1598012-25);广东省科技计划(2017B020209001)

99 Cases of Abnormal Chromosome Karyotype Analysis

MU Hui1, OU Minglin2,TANG Dong’e3,ZHANG Ruohan2, HE Huiyan3,LIANG Zhuojian3, ZOU Guimian1,2,DAI Yong3*   

  1. 1.College of Life Sciences, Guangxi Normal University, Guilin Guangxi 541006, China;
    2. Nephrology Department of Guilin No. 181 Hospital, Guangxi Key Laboratory of Metabolic Diseases Research, Guilin Guangxi 541002, China;
    3.Clinical Medical Research Center, the Second Clinical Medical College of Jinan University, Shenzhen Guangdong 518020, China
  • Received:2017-11-28 Online:2019-01-20 Published:2019-01-08

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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。

关键词: 染色体核型分析, 染色体异常, 产前诊断, 染色体检查

Abstract: 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 from 181st Hospital of Chinese People’s Liberation Army and Shenzhen People’s Hospital. 1 868 samples of peripheral blood and 541 samples of amniotic fluid were collected for the preparation of chromosome specimens. 15 abnormal karyotypes of peripheral blood were found in peripheral blood chromosomes. 84 abnormal karyotypes were found in amniotic fluid chromosome with the screeing positive rate of 15.52%. There are 99 cases 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.

Key words: chromosome karyotype analysis, chromosomal abnormalities, prenatal diagnosis, chromosome examination

中图分类号: 

  • Q343
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