Microhaplotype identified and performed in genetic investigation using PCR-SSCP.
The recently introduced concept of microhaplotype loci has attracted attention in forensics. Previous studies estimated the allele frequencies generally through obtaining genotypic data on the individual SNPs from a larger set of unrelated individuals then phasing microhaplotypes by statistical and computational techniques. Determining phase for a single new individual requires the larger set of individuals to have been genotyped previously. Rare microhaplotypes possessed only by the target individual or microhaplotypes private to a specific population not previously studied are unlikely to be accurately phased using data sets of SNPs. Thus, there is a demand for an approach that could directly determine a gain single individual's precise microhaplotype information. In the present study, we introduced potential approaches of single chain sequencing based Massively Parallel Sequencing Technology (MiSeq) and PCR based Single Strand Conformational Polymorphism (SSCP) technology which was simple, accurate, and cost-effective. The results indicated that microhaplotypes contain much more polymorphic information than divided SNPs per locus (average heterozygosity of microhaplotype 0.61 VS SNPs 0.41). When microhaplotype allele frequencies were compared among five Chinese ethnic populations, significantly different distributions were found between the Han and Uyghur populations. Further analysis of pairwise Fst values and analysis of molecular variance (AMOVA), showed significant population differentiation between the Uyghur and other populations.
Department of Forensic Biology, West China School of Preclinical and Forensic Medicine, Sichuan University, Chengdu 610041, PR China.
Peng
P
Chen
Department of Forensic Biology, West China School of Preclinical and Forensic Medicine, Sichuan University, Chengdu 610041, PR China.
Jing
J
Zhu
Department of Forensic Biology, West China School of Preclinical and Forensic Medicine, Sichuan University, Chengdu 610041, PR China.
Yan
Y
Pu
Department of Forensic Biology, West China School of Preclinical and Forensic Medicine, Sichuan University, Chengdu 610041, PR China.
Youjing
Y
Jiang
Department of Forensic Genetics, Institute of Forensic Science, Chengdu Public Security Bureau, Chengdu 610081, Sichuan, PR China.
Dan
D
Chen
Department of Forensic Genetics, Institute of Forensic Science, Chengdu Public Security Bureau, Chengdu 610081, Sichuan, PR China.
Hui
H
Wang
Department of Forensic Genetics, Institute of Forensic Science, Chengdu Public Security Bureau, Chengdu 610081, Sichuan, PR China.
Jiong
J
Mao
Laboratory of Molecular Translational Medicine, West China Institute of Women and Children's Health, Key Laboratory of Obstetric & Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu 610041, PR China.
Bin
B
Zhou
Laboratory of Molecular Translational Medicine, West China Institute of Women and Children's Health, Key Laboratory of Obstetric & Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu 610041, PR China.
Linbo
L
Gao
Department of Forensic Biology, West China School of Preclinical and Forensic Medicine, Sichuan University, Chengdu 610041, PR China.
Peng
P
Bai
Department of Forensic Biology, West China School of Preclinical and Forensic Medicine, Sichuan University, Chengdu 610041, PR China. Electronic address: liangweibo@gmail.com.
Weibo
W
Liang
Department of Forensic Biology, West China School of Preclinical and Forensic Medicine, Sichuan University, Chengdu 610041, PR China; Laboratory of Molecular Translational Medicine, West China Institute of Women and Children's Health, Key Laboratory of Obstetric & Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu 610041, PR China. Electronic address: zhanglin@scu.edu.cn.
Lin
L
Zhang
D002681:China; D016172:DNA Fingerprinting; D005006:Ethnicity / Q000235:genetics; D005787:Gene Frequency; D005828:Genetics, Population; D006239:Haplotypes; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D018807:Polymorphism, Single-Stranded Conformational
Forensic; Microhaplotype; PCR-SSCP; SNP