| 染色体技术在遗传性疾病临床诊断中的应用 |
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| 引用本文： | 霍满鹏,慕明涛,刘俊俊,王文强,蒲力群.染色体技术在遗传性疾病临床诊断中的应用[J].陕西师范大学学报,2003(Z2). |
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| 作者姓名： | 霍满鹏 慕明涛 刘俊俊 王文强 蒲力群 |
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| 作者单位： | 延安大学遗传学研究所 陕西延安716000
(霍满鹏，慕明涛，刘俊俊，王文强)，延安大学遗传学研究所 陕西延安716000(蒲力群) |
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| 摘 要： | 探讨了染色体技术对临床诊断某些疾病的应用价值 .应用常规外周血淋巴细胞染色体标本制备 ,G显带、C显带技术 ,脆性X染色体分析 .结果从 3 89例患者中检出异常核型 46例 ,检出率为 11.83 % .其中罗伯逊易位携带者 6例 ,平衡易位携带者10例 ,倒位携带者 4例 ,性染色体异常者 14例 ,先天愚型及发育异常者 12例 .结果表明 ,染色体技术是某些遗传性疾病临床诊断必不可少的手段 ,异常染色体的检出对患者的治疗、预后及优生、优育、优教都有重要指导意义 .
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| 关 键 词： | 染色体技术 染色体异常 临床诊断 |
Application of chromosomal technology in clinical diagnosis of heredtary diseases |
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| HUO Man-peng,MU Ming-tao,LIU Jun-jun,WANG Wen-qiang,PU Li-qun.Application of chromosomal technology in clinical diagnosis of heredtary diseases[J].Journal of Shaanxi Normal University: Nat Sci Ed,2003(Z2). |
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| Authors: | HUO Man-peng MU Ming-tao LIU Jun-jun WANG Wen-qiang PU Li-qun |
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| Abstract: | To investigate the applied value of chromosomal technology in clinical diagnosis of chromosome abnormality-related diseases.Methods:The routine techniques of G banding,C banding and fragile X chromosome analyses were used to analyse the chromosomal numbers and structure of peripheral hemocyto-lymphocyto cultivation.The chromosomal aberration was checked out in 46 cases from 389 related patients,ratio:11.83%,inclule:6 cases of Robertsonian translocation carrier,10 cases of balanced translocation carrier,4 cases of inversion carrier,and 14 cases of sex chromosome aberration,and 12 cases of mongolism and dysplasia. The cytogenetic technology is an usefui method to diagnose chromosome abnormality-related diseases.It also plays an important role in quiding cure and aristogenesis. |
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| Keywords: | chromosomal technology chromosomal aberration clinical diagnosis |
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