| 常用STR基因座突变的观察与分析 |
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| 引用本文： | Li QY,Feng WJ,Yang QG. 常用STR基因座突变的观察与分析[J]. 法医学杂志, 2005, 21(2): 86-89 |
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| 作者姓名： | Li QY Feng WJ Yang QG |
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| 作者单位： | 1. 华中科技大学同济医学院法医学系,湖北,武汉,430030
2. 武汉市公安局,湖北,武汉,430030 |
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| 摘 要： | 目的观察与分析常用STR基因座突变的特点。方法从1211例确定亲子关系的案例中收集到27个突变基因。用银染法和荧光标记试剂盒复核,并作序列测定证实。结果27个突变基因出现在15个基因座,突变方式符合步移突变模型。男女性别比例8∶1。突变率与父亲年龄正相关。结论突变率与基因座各等位基因均一重复单位个数的几何平均数相关,数值高的突变率较高,亲子鉴定中应谨慎使用。
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| 关 键 词： | 短串联重复序列(STR) 突变 测序 复制滑动 |
| 文章编号： | 1004-5619(2005)02-0086-04 |
| 修稿时间： | 2004-06-03 |
Observation and analysis on mutation of routine STR locus |
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| Li Qiu-yang,Feng Wei-jun,Yang Qin-gen. Observation and analysis on mutation of routine STR locus[J]. Journal of Forensic Medicine, 2005, 21(2): 86-89 |
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| Authors: | Li Qiu-yang Feng Wei-jun Yang Qin-gen |
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| Affiliation: | Department of Forensic Medicine, Tongji Medical College of Huazhong University of Science and Technology, Wuhan, China. xwqy1111@hotmail.com |
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| Abstract: | OBJECTIVE: To observe and analyze the characteristic of mutation at STR locus. METHODS: 27 mutant genes observed in 1211 paternity testing cases were checked by PAGE-silver stained and PowerPlex 16 System Kit and validated by sequencing. RESULTS: Mutant genes locate on 15 loci. The pattern of mutation was accord with stepwise mutation model. The mutation ratio of male-to-female was 8:1 and correlated to the age of father. CONCLUSION: Mutation rate is correlated to the geometric mean of the number of homogeneous repeats of locus. The higher the mean, the higher the mutation rate. These loci are not so appropriate for use in paternity testing. |
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| Keywords: | short tandem repeat mutation sequencing replication slippage |
| 本文献已被 CNKI 维普 万方数据 PubMed 等数据库收录！ |
