| 维吾尔族异常黑胆质型患者基因多态性研究 |
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| 引用本文： | 哈木拉提·吾甫尔,艾斯卡尔·依米提,伊力哈木江·沙比提,吾甫力·卡斯木,肉鲜古丽·沙比热.维吾尔族异常黑胆质型患者基因多态性研究[J].中华医学遗传学杂志,2003,20(1):77-78. |
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| 作者姓名： | 哈木拉提·吾甫尔 艾斯卡尔·依米提 伊力哈木江·沙比提 吾甫力·卡斯木 肉鲜古丽·沙比热 |
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| 作者单位： | 1. 830001,乌鲁木齐,新疆维吾尔医研究所分子生物学研究室
2. 和田地区维吾尔医院 |
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| 基金项目： | 国家自然科学基金 (39960 0 85)~~ |
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| 摘 要： | 目的：了解维吾尔族异常黑胆质型患者的基因多态性。方法：应用任意引物聚合酶链反应基因分析技术对维吾尔族异常黑胆质性4种疾病（n=116)全基因组DNA进行了多态性分析。结果：扩增出42条带，其中DNA指纹图谱中未表现多态性的条带为27，占总数的64．2％。另在220－334bp处发现6个表现个体特异性的任意引物－PCR产物（表型为：5／5、4／5、3／5、2／5）。结论：这一多态性区域可能将成为对异常黑胆质型患者进行早期基因诊断的分子标记之一。
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| 关 键 词： | 维吾尔族 黑胆质 基因多态性 研究 基因诊断 |
| 修稿时间： | 2001年12月13 |
Gene polymorphisms in Uighur patients with Abnormal Savda |
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| Halmurat Upur ,Askar Yimit ,Ilhamjan Sabit ,Obul Kasim ,Roxangul Sabir ..Gene polymorphisms in Uighur patients with Abnormal Savda[J].Chinese Journal of Medical Genetics,2003,20(1):77-78. |
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| Authors: | Halmurat Upur Askar Yimit Ilhamjan Sabit Obul Kasim Roxangul Sabir |
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| Institution: | Institute of Xinjiang Uighur Medicine, Urumqi, Xinjiang, PR China. |
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| Abstract: | Objective To investigate gene polymorphisms in Uighur patients with Abnormal Savda . Methods Polymorphisms of genomic fingerprints generated by arbitrarily primed PCR(AP PCR) can be used for distinguishing between strains of almost any organism. The authors of this article applied the technique to the polymorphism analysis on the DNA of Uighur patients suffering from four kinds of Abnormal Savda ( n =116), and on the DNA of a control group( n =50). Results From the patients, 42 fragments were obtained, among them 27(64.2%) fragments did not show gene polymorphisms. On the 220 344 bp regions, the authors detected 6 AP PCR products showing individual specificity. Conclusion The polymorphisms may serve as a molecular marker for gene diagnosis in the patients with Abnormal Savda . |
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| Keywords: | gene polymorphisms Uighur Abnormal Savda |
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