304例染色体异常与17例世界首报染色体异常核型
发布时间：2019-07-03 09:20
【摘要】：目的：染色体畸变直接影响到人类的生殖健康，现已发现人类染色体数目异常和结构畸变10，000余种，染色体综合征350余种，其中除携带者和少数性染色体异常外，智力低下和生长发育迟缓几乎是染色体异常者的共同特征。我们对2873例具有染色体检查指征的个体进行染色体核型分析，探讨人类染色体异常与疾病的关系，为人类基因定位、基因克隆、突变分析等提供资料。 材料与方法：自2001年9月—2005年12月本课题进行期间和1987年3月—2001年8月本科室对2873例因不孕(育)症、习惯性流产、有生育畸形、死胎、死产、两性畸形史、有遗传病家族史等前来就诊和咨询者进行细胞遗传学检查。取受检者肝素抗凝外周血，无菌条件下进行淋巴细胞培养，G显带，计数30个分裂相，分析核型3个，异常者加倍分析。 结果：2873例患者中，染色体异常304例，染色体异常检出率10.58％(不包括性反转和大Y)。其中，，常染色体异常271例，占异常的89.14％；性染色体异常33例，占异常的10.86％；经中国医学遗传中心鉴定，世界首报染色体异常核型17例，占染色体异常的5.59％。 结论：1．本文发现17例世界首报核型。
[Abstract]:Aim: chromosome distortion has a direct impact on human reproductive health. More than 10000 species of chromosome number and structural abnormalities and more than 350 species of chromosome syndrome have been found, among which mental retardation and growth retardation are almost common characteristics of chromosome abnormalities except carriers and a few sex chromosome abnormalities. We analyzed the karyotype of 2873 individuals with chromosome examination indications, discussed the relationship between human chromosome abnormalities and diseases, and provided data for human gene localization, gene cloning, mutation analysis and so on. Materials and methods: from September 2001 to December 2005 and from March 1987 to August 2001, 2873 cases of infertile (fertility), habitual abortion, birth deformity, stillbirth, hermaphroditism, family history of genetic diseases were examined. The peripheral blood of heparin anticoagulant was cultured under aseptic condition, G banding, 30 mitotic phases were counted, 3 karyotypes were analyzed, and the abnormal persons were double analyzed. Results: of the 2873 patients, 304 had chromosome abnormalities, and the detection rate of chromosome abnormalities was 10.58% (excluding sex reversal and large Y). Among them, 271 cases (89.14%) had autosomal abnormalities, 33 cases (10.86%) had abnormal sex chromosomes, and 17 cases (5.59%) had abnormal karyotypes reported in the world by the Chinese Medical genetic Center. Conclusion: 1. 17 cases of karyotype reported in the world are found in this paper.
【学位授予单位】：郑州大学
【学位级别】：硕士
【学位授予年份】：2006
【分类号】：R394
本文编号：2509270
[Abstract]:Aim: chromosome distortion has a direct impact on human reproductive health. More than 10000 species of chromosome number and structural abnormalities and more than 350 species of chromosome syndrome have been found, among which mental retardation and growth retardation are almost common characteristics of chromosome abnormalities except carriers and a few sex chromosome abnormalities. We analyzed the karyotype of 2873 individuals with chromosome examination indications, discussed the relationship between human chromosome abnormalities and diseases, and provided data for human gene localization, gene cloning, mutation analysis and so on. Materials and methods: from September 2001 to December 2005 and from March 1987 to August 2001, 2873 cases of infertile (fertility), habitual abortion, birth deformity, stillbirth, hermaphroditism, family history of genetic diseases were examined. The peripheral blood of heparin anticoagulant was cultured under aseptic condition, G banding, 30 mitotic phases were counted, 3 karyotypes were analyzed, and the abnormal persons were double analyzed. Results: of the 2873 patients, 304 had chromosome abnormalities, and the detection rate of chromosome abnormalities was 10.58% (excluding sex reversal and large Y). Among them, 271 cases (89.14%) had autosomal abnormalities, 33 cases (10.86%) had abnormal sex chromosomes, and 17 cases (5.59%) had abnormal karyotypes reported in the world by the Chinese Medical genetic Center. Conclusion: 1. 17 cases of karyotype reported in the world are found in this paper.
【学位授予单位】：郑州大学
【学位级别】：硕士
【学位授予年份】：2006
【分类号】：R394
【引证文献】
相关期刊论文 前2条
1 冯杏琳;申华;罗素霞;刘丹;胡艳杰;毕勇毅;;79例染色体异常核型及临床分析[J];中国优生与遗传杂志;2014年08期
2 冯杏琳;申华;罗素霞;邵慧娟;胡艳杰;;84例染色体异常核型及临床分析——附5例世界首报染色体异常核型[J];国际遗传学杂志;2012年03期
本文编号：2509270
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