title: Evaluation of the genetic parameters and mutation analysis of 22 STR loci in the central Chinese Han population.
abstract: At present, the Han nationality is China's main ethnic group and also the most populous nation in the world. This is a great resource to study microsatellite mutations and for the study of ethnogeny. The aim of this study is to investigate the genetic polymorphisms and mutations of 22 autosomal STR loci in 2475 individuals from Henan province, China. DNA is amplified and genotyped using PowerPlex™24 system. The gene frequencies, forensic parameters, and the mutation rate of the 22 STR loci are analyzed. A total of 295 alleles are observed in this Henan Han population, and the allelic frequencies ranged from 0.0003 to 0.5036. In order to investigate the genetic relationships between the Henan Han and the other 14 different populations, our present data were compared with previously published data for the same 15 STR loci. The results indicated that the Henan Han had closer genetic relationships the groups including Minnan Han, Maonan, Yi and Guangdong Han groups while the South morocco population, the Moroccan population, the Malay group, and the Uigur stand away from Henan Han. Except of D2S441, D13S317, PentaE, D2S1338, D5S818, TPOX and D19S433, the mutation events are found in the other 15 STR loci. A total of 40 mutation events are observed in the 15 STR loci. The mutation rates are ranged from 0 to 4.85 × 10-3. In this study, 39 mutations are single-step mutations, and only one at FGA comprised two steps. STR mutation is commonly existed in paternity testing, while there are no STR mutation studies of the 22 STR loci in the Henan Han population. It is of great importance in forensic individual discrimination and paternal testing.
authors.affiliation: Medical Genetic Institute of Henan Province, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, Zhengzhou, Henan, 450003, People's Republic of China. wanghongdan5495@163.com.|Key Laboratory of Shaanxi Province for Craniofacial Precision Medicine Research, College of Stomatology, Xi'an Jiaotong University, Xi'an, Shaanxi, 710004, People's Republic of China. wanghongdan5495@163.com.
authors.forename: Wang
authors.initials: W
authors.lastname: Hongdan
authors.affiliation: Medical Genetic Institute of Henan Province, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, Zhengzhou, Henan, 450003, People's Republic of China.
authors.forename: Kang
authors.initials: K
authors.lastname: Bing
authors.affiliation: Medical Genetic Institute of Henan Province, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, Zhengzhou, Henan, 450003, People's Republic of China.
authors.forename: Su
authors.initials: S
authors.lastname: Ning
authors.affiliation: Medical Genetic Institute of Henan Province, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, Zhengzhou, Henan, 450003, People's Republic of China.
authors.forename: He
authors.initials: H
authors.lastname: Miao
authors.affiliation: Medical Genetic Institute of Henan Province, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, Zhengzhou, Henan, 450003, People's Republic of China.
authors.forename: Zhang
authors.initials: Z
authors.lastname: Bo
authors.affiliation: Key Laboratory of Shaanxi Province for Craniofacial Precision Medicine Research, College of Stomatology, Xi'an Jiaotong University, Xi'an, Shaanxi, 710004, People's Republic of China.|Clinical Reaserch Center of Shaanxi Province for Dental and Maxillofacial Diseases, College of Stomatology, Xi'an Jiaotong University, Xi'an, Shaanxi, 710004, People's Republic of China.|Research Center of Stomatology, Stomatological Hospital, Xi'an Jiaotong University, Xi'an, Shaanxi, 710004, People's Republic of China.
authors.forename: Guo
authors.initials: G
authors.lastname: Yuxin
authors.affiliation: Key Laboratory of Shaanxi Province for Craniofacial Precision Medicine Research, College of Stomatology, Xi'an Jiaotong University, Xi'an, Shaanxi, 710004, People's Republic of China.|Clinical Reaserch Center of Shaanxi Province for Dental and Maxillofacial Diseases, College of Stomatology, Xi'an Jiaotong University, Xi'an, Shaanxi, 710004, People's Republic of China.|Research Center of Stomatology, Stomatological Hospital, Xi'an Jiaotong University, Xi'an, Shaanxi, 710004, People's Republic of China.
authors.forename: Zhu
authors.initials: Z
authors.lastname: Bofeng
authors.affiliation: Medical Genetic Institute of Henan Province, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, Zhengzhou, Henan, 450003, People's Republic of China. ychslshx@126.com.
authors.forename: Liao
authors.initials: L
authors.lastname: Shixiu
authors.affiliation: School of Basic Medical Sciences, Zhengzhou University, Zhengzhou, Henan, 450000, People's Republic of China. zzu.zzs.2010@qq.com.
authors.forename: Zeng
authors.initials: Z
authors.lastname: Zhaoshu
mesh_terms: D002681:China; D016172:DNA Fingerprinting; D005006:Ethnicity / Q000235:genetics*; D005787:Gene Frequency; D005828:Genetics, Population; D006579:Heterozygote; D006801:Humans; D018895:Microsatellite Repeats; D009154:Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic
keywords: Genetic polymorphisms; Mutation rates; PowerPlexTM24 kit; Short tandem repeat (STR)