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| 中国汉族人群遗传性聋基因座位STR位点的遗传多态性研究 | |
| 引用本文： | 叶胜难,曹菊阳,段海清,于黎明,韩东一,张兆山,杨伟炎,姜泗长. 中国汉族人群遗传性聋基因座位STR位点的遗传多态性研究[J]. 福建医药杂志, 2004, 26(6): 159-162 |
| 作者姓名： | 叶胜难 曹菊阳 段海清 于黎明 韩东一 张兆山 杨伟炎 姜泗长 |
| 作者单位： | 1. 福建医科大学附属第一医院耳鼻喉科,350005 2. 中国人民解放军耳鼻咽喉研究所,中国人民解放军总医院耳鼻咽喉-头颈外科,100853 3. 中国人民解放军军事医学科学院生物工程研究所,100071 |
| 基金项目： | 国家杰出青年基金 (3972 50 2 6)，福建省青年创新人才基金 (2 0 0 2J0 4 8) |
| 摘 要： | 目的 研究中国汉族人群10个遗传性聋基因座位的短串连重复序列(STR)的遗传多态性。方法 应用PCR方法对10个位点进行扩增，变性聚丙烯酰胺凝胶电泳分离，记录基因型。采用PPAP软件计算正常人各STR位点等位片段频率、基因型频率、预期基因型频率、多态信息量(PIC)和Hardy-Weinberg平衡吻合性检验。结果 中国汉族人群D6S287、D8S1132、D13S1275、D15S130、D1S2726、D4S3038、D2S2380、D22S282、D14S1042、D7S529各位点分别检出10个、9个、8个、7个、7个、7个、6个、6个、6个及5个等位片段，多态性分布均符合Hardy-Weinberg平衡定律。各位点PIC值分别为0．879、0．854、0．864、0．821、0．686、0．794、0．764、0．732、0．773、0．712；杂合度均高于0．7。结论 中国汉族人群10个位点STR均具有较高的杂合度和多态信息量，是较理想的遗传标记。 |
| 关 键 词： | 杂合度 中国 汉族 遗传性聋基因 基因座位 STR位点 遗传多态性 |
| 文章编号： | 1002-2600(2004)06-0159-04 |
The genetic polymorphism of short tandem repeats in Han population |
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| Ye Shengnan ,,Chao Juyang ,Duan Haiqing ,et al.. The genetic polymorphism of short tandem repeats in Han population[J]. Fujian Medical Journal, 2004, 26(6): 159-162 | |
| Authors: | Ye Shengnan Chao Juyang Duan Haiqing et al. |
| Affiliation: | Ye Shengnan 1,2,Chao Juyang 2,Duan Haiqing 3,et al.1.Department of Otolaryngology,The First Affiliated Hospital,Fujian Medical University,Fuzhou 350005,China.2.Otorhinolaryngology Institute,Chinese PLA General Hospital,Department of Otorhinolaryngology,Head and Neck Surgery,Chinese PLA Beijing 100853,China.3.Institute of Bioengineering,Academy of Military Medical Sciences,Beijing 100071,China. |
| Abstract: | Objective To elucidate the genetic polymorphism of 10 short tandem repeates(STR)of 10 hereditary deafness loci in Han population.Methods DNA was isolated from blood samples in 50 normal subjects.STR genetic markers were analyzed by polymerase chain reaction and polyacrylamide gel electrophoresis using the standard procedures.PPAP software was used to calculate the allele frequencies,heterozygosity,tandem polymorphism information content(PIC)and Hardy-Weinberg test of 10 in normal persons.Results We found that 10,9,8,7,7,6,6,6,5 alleles were observed at D6S1132,D8S1132,D13S1275,D15S130,D1S2726,D4S3038,D2S2380,D22S282,D14S1042,D7S529 loci,respectively.The distributions of genotypes in Chinese Han were in accordance with Hardy-Weinberg equilibrium,and the PICs and the heterozygosities were more than 0.7 for them,respectively.Conclusion The 10 STR were verified as good genetic marker with high heterozygosities and polymorphism information content in Han population. |
| Keywords: | Short tandem repeats Polymorphism information content Heterozygosity |
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