Jienan Li

Population data for 22 autosomal STR loci in the Uygur ethnic minority

Allele frequencies and forensically relevant population statistics parameter of 22 short tandem repeat (STR) loci were determined from 525 unrelated Uygur ethnic individuals. The samples were amplified with Microreader™ 23sp ID system. No significant deviation from Hardy–Weinberg equilibrium was detected, except for loci D7S3048, D21S1270, and D13S325. Investigated loci are very discriminating in Uygur ethnic population, with a combined discrimination power of 0.999999999999999999999999999920743. Furthermore, a comparison with previously published frequency data from Han population is presented.

Developmental validation of a custom panel including 165 Y-SNPs for Chinese Y-chromosomal haplogroups dissection using the ion S5 XL system

Massively parallel sequencing (MPS) technology has the capability to genotype hundreds to thousands of SNPs from multiple samples, with high coverage in a single experimental run. MPS, which enables high-resolution Y haplogrouping from limited DNA resources, has attracted much interest in Y-chromosomal applications, particularly human forensics and anthropological studies. Previously, we selected and designed a 72 Y-SNPs MPS panel aiming at the Chinese population for providing the basic structure of the haplogroup tree, and then additional Y-SNPs were screened out for further subdivision into different populations by using pyrosequencing technology. In the present study, we designed a customized MPS panel that includes 165 Y-SNPs based on our previous studies and evaluated the sequencing performance, sensitivity and the ability of the MPS-SNP panel to analyze case-type samples using the Ion S5 XL System. In the concordant study, only four Y-SNPs presented missing genotypes due to low coverage reads, and five SNPs were prone to being designated heterozygotes, whereas the designation of the other SNPs were fully consistent with the results obtained from other Y-SNP typing tools. The analyst-interpreted Y-SNP profiles demonstrated that the targeted Y-SNPs, except for the nine poorly performing Y-SNPs, performed well and could acquire achievable high-resolution. Moreover, this MPS panel could be adapted to case-type samples, and single source complete profiles could be stably obtained using 1 ng of input DNA. In summary, this MPS Y-SNP panel offers a straightforward sample-to-haplogroup workflow that would be beneficial for paternal lineage classification and forensic pedigree searches, and the present results provide support for the application of MPS technology in SNP analysis.

Population genetic analysis of a 21-plex DIP panel in seven Chinese ethnic populations

A 21-plex DIP (deletion and insertion polymorphism) panel has a good performance in analyzing biogeographic ancestry in three main global population groups (European, African, and Asian). This panel was used to investigate 450 unrelated individuals in seven Chinese ethnic groups (Han, Dong, Miao, Zhuang, Uyghur, Tibetan, and Mongolian). Allele frequencies were calculated. Mho (mean value of observed heterozygosity) ranged from 0.3019 to 0.4367, MHe (mean value of expected heterozygosity) ranged from 0.31175 to 0.38341, CMP (combined matching probability) ranged from 3.5834E-07 to 2.5985E-06, CDP (combined power of discrimination) ranged from 0.99999740150 to 0.99999964166, and CPE (combined power of paternity exclusion) ranged from 0.85884504 to 0.97949131. The results suggested the potential of the panel for individual identification and paternity testing in Chinese populations. Pairwise genetic differences Fst values (−0.00091 to 0.05873) and the analysis by STRUCTURE indicated that Chinese populations have good internal consistency.

Polymorphism study of nine SNPs associated with subjective response to alcohol in Chinese Han, Hui, Tibetan, Mongolian and Uygur populations

ABSTRACT Heavy alcohol drinking is a major public health problem, causing a large disease, social and economic burden in societies. Subjective response (SR) to alcohol is an intermediate characteristic of heavy drinking. A variety of candidate genes have been reported to be associated with SR to alcohol. In this study, we investigated nine single nucleotide polymorphisms (SNPs) related to SR to alcohol in healthy individuals from five Chinese ethnic groups, the Han, Hui, Tibetan, Mongolian and Uygur populations, and a total of 584 bloodstain samples were collected. The nine SNPs included four SNPs in alcohol-metabolizing genes (ADH1B, ADH1C, ALDH2 and CYP2E1*5B) and five SNPs in genes of neurobiological pathways (GABRA2, OPRM1, CHRNA3, HYKK and SLC6A4). A SNaPshot analysis method was developed to type these SNPs simultaneously, and all samples were typed successfully. Statistical analyses of the allele frequencies indicated that the frequencies of all SNPs, except for ADH1C, showed varying degrees of difference in the five studied ethnic groups. Tibetans showed the highest frequencies of risk alleles for heavy drinking at most loci. The genetic polymorphic differences found in this study revealed the variation in genetic susceptibility to heavy drinking in the studied populations.