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PON2基因Cys-Ser311多态性与冠心病的关系 被引量:4
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作者 邵海琴 周新 +1 位作者 李霞 张颖 《中国老年学杂志》 CAS CSCD 北大核心 2004年第1期30-31,共2页
目的 研究中国人对氧磷酶 (PON2 )基因 Cys- Ser31 1遗传多态性与冠心病 (CHD)的关系。方法 采用多聚酶链反应 -限制性片段长度多态性法 (PCR- RFL P)检测 80例 CHD患者和 1 60例相匹配的正常人 PON2 Cys- Ser31 1基因型。结果  CHD... 目的 研究中国人对氧磷酶 (PON2 )基因 Cys- Ser31 1遗传多态性与冠心病 (CHD)的关系。方法 采用多聚酶链反应 -限制性片段长度多态性法 (PCR- RFL P)检测 80例 CHD患者和 1 60例相匹配的正常人 PON2 Cys- Ser31 1基因型。结果  CHD患者 S等位基因频率显著高于对照组 ,C等位基因频率显著低于对照组 (P<0 .0 5) ,CHD组 SS基因型血浆高密度脂蛋白胆固醇 (HDL- C)水平显著低于对照组 (P<0 .0 5)。结论 PON2基因 Cys- Ser31 1多态性与中国人 CHD相关联。 展开更多
关键词 氧磷酶 Cys-Ser311基因 遗传多态性 冠心病 PCR-RFLP 基因记数法
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EFFICIENT ALGORITHMS FOR IDENTIFYING ORTHOLOGOUS SIMPLE SEQUENCE REPEATS OF DISEASE GENES 被引量:1
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作者 Chienming CHEN Chihchia CHEN +3 位作者 Tsanhuang SHIH Tunwen PAI Chinhua-HU Wenshyong TZOU 《Journal of Systems Science & Complexity》 SCIE EI CSCD 2010年第5期906-916,共11页
Dynamic mutations of simple sequence repeats (SSRs) have been demonstrated to affect normal gene function and cause different genetic disorders. Several conserved and even partial functional SSR patterns are discove... Dynamic mutations of simple sequence repeats (SSRs) have been demonstrated to affect normal gene function and cause different genetic disorders. Several conserved and even partial functional SSR patterns are discovered in inherited orthologous disease genes. To explore a wide range of SSRs in genetic diseases, a comprehensive system focusing on identifying orthologous SSRs of disease genes through a comparative genomics mechanism is constructed and accomplished by adopting online Mendelian inheritance in man (OMIM) and NCBI HomoloGene databases as the fundamental resources of human genetic diseases and homologous gene information. In addition, an efficient and effective algorithm for searching SSR patterns is also developed for providing annotated SSR information among various model species. By integrating these data resources and mining technologies, biologists and doctors can systematically retrieve novel and important conserved SSR information among orthologous disease genes. The proposed system, Orthologous SSR for Disease Genes (OSDG), is the first comprehensive framework for identifying orthologous SSRs as potential causative factors of genetic disorders and is freely available at http://osdg.cs.ntou.edu.tw/. 展开更多
关键词 Comparative genomics genetic diseases HomoloGene microsatellites Online Mendelian Inheritance in Man (OMIM) short tandem repeat simple sequence repeat (SSR).
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