[1]曾昭书)△,王黎),方宇),等.高个体识别力通用单核苷酸多态性位点筛选及检测*[J].郑州大学学报(医学版),2010,(03):378-380.
 ZENG Zhaoshu),WANG Li),FANG Yu),et al.Screening and genotyping of highly informative and universally applicable single nucleotide polymorphisms for individual identification[J].JOURNAL OF ZHENGZHOU UNIVERSITY(MEDICAL SCIENCES),2010,(03):378-380.
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高个体识别力通用单核苷酸多态性位点筛选及检测* ()
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《郑州大学学报(医学版)》[ISSN:1671-6825/CN:41-1340/R]

卷:
期数:
2010年03期
页码:
378-380
栏目:
论著
出版日期:
2010-05-15

文章信息/Info

Title:
Screening and genotyping of highly informative and universally applicable single nucleotide polymorphisms for individual identification
作者:
曾昭书1)王黎2)方宇3)张书红1)张广政1)郭克民1)
1)郑州大学基础医学院法医学教研室郑州4500012)郑州大学基础医学院寄生虫学教研室郑州4500013)郑州大学第一附属医院急诊科郑州450052
Author(s):
ZENG Zhaoshu1) WANG Li2) FANG Yu3) ZHANG Shuhong1) ZHANG Guangzheng1)GUO Kemin1)
关键词:
个体识别单核苷酸多态性rs4607417rs749305焦磷酸测序
Keywords:
individual identificationsingle nucleotide polymorphism rs4607417 rs749305 pyrosequencing
分类号:
DF795.2
摘要:
在全基因组中查找能够在世界各大人群中通用的高个体识别力单核苷酸多态性(SNPs)位点,以期为SNPs应用于法医学个体识别奠定基础。方法:从国际人类基因组单体型图计划(HapMap)数据库下载270名个体各约4 000 000个全基因组SNPs分型数据,运用自主编写的计算机程序,按照较小等位基因频率(MAF)≥0.45的原则提取在中国北京汉族人群、日本东京人群、尼日利亚约鲁巴人群以及美国白人人群中同时存在的SNPs,以焦磷酸测序技术对其中的rs4607417和rs749305在河南汉族人群(n=144)中进行群体遗传学调查,计算HardyWeinberg平衡概率(HWP)、杂合度(Het)、多态信息含量(PIC)和个体识别力(DP),并与HapMap的数据(n=45)进行比较。结果:共找到1 439个通用的SNPs。在河南汉族人群中,rs4607417和rs749305的HWP分别为0.872和0.423,Het分别为0.476和0.524,PIC分别为0.384和0.388,DP分别为0.616和0.612。与4个人群相比,仅在rs4607417上其等位基因频率与日本东京人群差异有统计学意义(χ2=5.068,P=0.024)。结论:rs4607417和rs749305是通用的高个体识别力SNPs;前述筛选获得的1 439个SNPs具有高度可靠性和可信度,可用作在世界各人群中通用的个体识别核心SNPs。
Abstract:
To genomewidely search for highly informative single nucleotide polymorphisms(SNPs) simultaneously existing among the world's major populations and to lay a basis for SNPs’ applications on individual identification.Methods:The genotyping data of 270 individuals (about 4 000 000 SNPs per genome) were downloaded from the HapMap database. A set of computer programs was selfedited and performed to extract SNPs with minor allele frequency(MAF) ≥0.45 among the four populations: U.S. residents with northern and western European ancestry by the Centre d'Etude du polymorphisme Humain (CEPH or CEU), Han Chinese in Beijing (HCB), Japanese from Tokyo(JPT) and Yoruba people of Ibadan, Nigeria (YRI).

参考文献/References:

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备注/Memo

备注/Memo:
△男,1973年5月生,博士,副教授,研究方向:法医物证学,Email:zzs@zzu.edu.cn*国家自然科学基金资助项目30700966;中国博士后科学基金资助项目20070420812;郑州大学引进人才专项基金资助项目2005
更新日期/Last Update: 2010-05-28