| 染色体技术在相关疾病临床诊断中的应用 |
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| 引用本文： | 彭亮,焦海燕,陈银涛.染色体技术在相关疾病临床诊断中的应用[J].宁夏医科大学学报,2002,24(1):19-21. |
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| 作者姓名： | 彭亮 焦海燕 陈银涛 |
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| 作者单位： | 宁夏医学院生物学教研室 银川750004
(彭亮，焦海燕)，宁夏医学院生物学教研室 银川750004(陈银涛) |
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| 摘 要： | 目的：探讨染色体技术对临床诊断某些疾病的应用价值。方法：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，姐妹染色单体交换（SCE）技术、染色体断裂试验、骨髓染色体标本制备技术。结果：304例患者中检出异常核型39例，异常染色体核型率为12．72％。其中罗伯逊易位携带者4例,Klinefelter综合征患者11例，Turner综合征患者1例，完全型睾丸女性化综合征患者（46，XY）1例，21三体患者16例，Ph染色体阳性3例，范可尼氏贫血患者3例。结论：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 |
| 文章编号： | 1005-8486(2002)01-0019-03 |
| 修稿时间： | 2001年9月6日 |
Application of Chromosomal Technology In Clinical Diagnosis of Chromosome Abnormality-Related Diseases |
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| PENG Liang,JIAO Hai-yan,CHEN Yin-tao.Application of Chromosomal Technology In Clinical Diagnosis of Chromosome Abnormality-Related Diseases[J].Journal of Ningxia Medical College,2002,24(1):19-21. |
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| Authors: | PENG Liang JIAO Hai-yan CHEN Yin-tao |
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| Abstract: | Objective:Chromosomes carry the genetic information in the form of gene which controls the formation of functional polypeptide chains,chromosome abnormality will certainly elicit cellular abrormal behavior fasion diseases.This paper was to investigate the application and significance of chromosomal technology in clinical diagnosis of chromosome-abnormality-related diseases.Methods:The routine techniques of G banding,C banding and sister chromatid exchange(SCE) were used to analyse the chromosomal structure and numbers of WBC from 304 related patients.Results:The chromosomal aberration was checked out in 39 patients.Conclusion:The cytogenetic technology is an useful method to diagnose chromosome abnormality-related diseases.It also plays an important role in guiding cure and aristogenesis. |
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| Keywords: | cytogenetics chromosomal aberration clinical diagnosis |
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