Analysis of linkage and linkage disequilibrium for syntenic STRs on 12 chromosomes

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• 作者：Weiwei Wu (1)
  Honglei Hao (1)
  Qiuling Liu (2)
  Xian Han (2)
  Yeda Wu (2)
  Jianding Cheng (2)
  Dejian Lu (2)
  
• 关键词：Short tandem repeats (STR) ; Linkage disequilibrium ; Syntenic ; Recombination ; Forensic statistics
• 刊名：International Journal of Legal Medicine
• 出版年：2014
• 出版时间：September 2014
• 年：2014
• 卷：128
• 期：5
• 页码：735-739
• 全文大小：172 KB
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• 作者单位：Weiwei Wu (1)
  Honglei Hao (1)
  Qiuling Liu (2)
  Xian Han (2)
  Yeda Wu (2)
  Jianding Cheng (2)
  Dejian Lu (2)
  
  1. Department of Criminal Investigation of Zhejiang Provincial Public Security Bureau, 66#, Minsheng Road, 310009, Hangzhou, People’s Republic of China
  2. Faculty of Forensic Medicine, Zhongshan Medical School of Sun Yat-sen University, 74# Zhongshan Road II, Guangzhou, 510089, People’s Republic of China
  
• ISSN：1437-1596

文摘

The purpose of this study is to evaluate allelic association and linkage of 18 adjacent syntenic short tandem repeat (STR) pairs form out of 30 markers located on 12 different autosomes. Linkage disequilibrium was tested by using the unknown gametic phase genotypes and phased haplotypes from 290 unrelated individuals from Chinese Han population. Genetic linkage analysis between syntenic STRs was performed based on 145 two-generation families which involved 628 meioses. The results showed no significant linkage disequilibrium at any STR pairs and independent inheritance between syntenic STR pairs was indicated. Significant linkage (maximum logarithm of odd (LOD) scores >3.0) was found in 6 out of the 18 adjacent syntenic STR pairs (D1S1627-D1S1677, CSF1PO-D5S818, D6S1017-D6S1043, D6S1043-D6S474, D12S391-vWA, and D19S253-D19S433). These significant linkage marker pairs had a genetic distance ranged from 11.94 to 41.33?cM deduced from HapMap. When recombination fractions determined in families were compared to those derived from Kosambi mapping function based on HapMap data, the latter may have an overestimation. In summary, our results demonstrated that product rule included syntenic STRs can be used for unrelated individual profile probability and the recombination fraction based on family data was superior to the estimation from HapMap for kinship analysis.