【摘要】：目的：染色體畸變直接影響到人類的生殖健康，現(xiàn)已發(fā)現(xiàn)人類染色體數(shù)目異常和結(jié)構(gòu)畸變10，000余種，染色體綜合征350余種，其中除攜帶者和少數(shù)性染色體異常外，智力低下和生長(zhǎng)發(fā)育遲緩幾乎是染色體異常者的共同特征。我們對(duì)2873例具有染色體檢查指征的個(gè)體進(jìn)行染色體核型分析，探討人類染色體異常與疾病的關(guān)系，為人類基因定位、基因克隆、突變分析等提供資料。 材料與方法：自2001年9月—2005年12月本課題進(jìn)行期間和1987年3月—2001年8月本科室對(duì)2873例因不孕(育)癥、習(xí)慣性流產(chǎn)、有生育畸形、死胎、死產(chǎn)、兩性畸形史、有遺傳病家族史等前來就診和咨詢者進(jìn)行細(xì)胞遺傳學(xué)檢查。取受檢者肝素抗凝外周血，無(wú)菌條件下進(jìn)行淋巴細(xì)胞培養(yǎng)，G顯帶，計(jì)數(shù)30個(gè)分裂相，分析核型3個(gè)，異常者加倍分析。 結(jié)果：2873例患者中，染色體異常304例，染色體異常檢出率10.58％(不包括性反轉(zhuǎn)和大Y)。其中，，常染色體異常271例，占異常的89.14％；性染色體異常33例，占異常的10.86％；經(jīng)中國(guó)醫(yī)學(xué)遺傳中心鑒定，世界首報(bào)染色體異常核型17例，占染色體異常的5.59％。 結(jié)論：1．本文發(fā)現(xiàn)17例世界首報(bào)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.
【學(xué)位授予單位】：鄭州大學(xué)
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2006
【分類號(hào)】：R394

【引證文獻(xiàn)】

相關(guān)期刊論文 前2條

1 馮杏琳;申華;羅素霞;劉丹;胡艷杰;畢勇毅;;79例染色體異常核型及臨床分析[J];中國(guó)優(yōu)生與遺傳雜志;2014年08期

2 馮杏琳;申華;羅素霞;邵慧娟;胡艷杰;;84例染色體異常核型及臨床分析——附5例世界首報(bào)染色體異常核型[J];國(guó)際遺傳學(xué)雜志;2012年03期

本文編號(hào)：2509270