A targeted ancestry informative InDels panel on capillary electrophoresis for ancestry inference in Asian populations

2021 ◽  
Author(s):  
Qiang Zhu ◽  
Yueyan Cao ◽  
Shu Zhang ◽  
Yuguo Huang ◽  
Yuhan Hu ◽  
...  
Keyword(s):  
Capillary Electrophoresis ◽  
Asian Populations ◽  
Ancestry Inference

scholarly journals Genetic Structural Differentiation Analyses of Intercontinental Populations and Ancestry Inference of the Chinese Hui Group Based on a Novel Developed Autosomal AIM-InDel Genotyping System

2020 ◽  
Vol 2020 ◽  
pp. 1-12
Author(s):  
Tong Xie ◽  
Chunmei Shen ◽  
Xiaoye Jin ◽  
Qiong Lan ◽  
Yating Fang ◽  
...  
Keyword(s):  
Genetic Relationships ◽  
East Asian ◽  
Fixation Index ◽  
Scaling Analysis ◽  
Component Ratio ◽  
Ancestry Informative Marker ◽  
Structural Differentiation ◽  
Chinese Han ◽  
Asian Populations ◽  
Ancestry Inference

In the present study, we investigated the genetic polymorphisms of 39 ancestry informative marker-insertion/deletion (AIM-InDel) loci in the Chinese Hui group using a previously self-developed panel, further clarified the genetic relationships between the Hui group and other reference populations, and assessed the ancestry inference efficiency of the AIM-InDel panel based on the worldwide population data from 1000 Genomes Phase 3. The results of the locus-specific informativeness (In) and pairwise fixation index (Fst) values, multidimensional scaling analysis, and success ratio of estimation with cross-validation showed that the novel panel could well reveal the genetic structural differentiations of the East Asian, European, African, and South Asian populations. Besides, the biogeographical ancestry origin inference both at the individual and population levels was conducted on the Chinese Hui group by principal component analysis and STRUCTURE analysis, and the results revealed that the Hui group had the East Asian origin, and the East Asian component ratio of Hui group was approximately 88.87%. Furthermore, the population genetic analyses among the Hui group and reference populations were performed based on the insertion allele frequency heat map, population pairwise Fst values and phylogenetic tree, and the results indicated that the Hui group was genetically closer to East Asian populations, especially two Chinese Han populations (CHS and CHB populations).

scholarly journals Screening and selection of 21 novel microhaplotype markers for ancestry inference in ten Chinese Subpopulations

2021 ◽  
Author(s):  
Xing Zou ◽  
Guanglin He ◽  
Jing Liu ◽  
Lirong Jiang ◽  
Mengge Wang ◽  
...  
Keyword(s):  
Massively Parallel Sequencing ◽  
East Asian ◽  
Principal Component ◽  
Amplification Efficiency ◽  
East Asians ◽  
Chinese Populations ◽  
Asian Populations ◽  
Continental Population ◽  
High Discriminatory Power ◽  
Ancestry Inference

Genetic findings suggested that ethnolinguistically diverse populations in China harbor differentiated genetic structure and complex evolutionary admixture history, which provide the genetic basis and theoretical foundation for forensic biogeographical ancestry inference (BGAI). Forensic assays for BGAI among intracontinental eastern Eurasians were previously conducted mainly based on the SNPs or InDels. Microhaplotypes, as a set of closely linked SNPs within 200 base pairs, possess the advantages of both STR and SNP and have great potential in forensic ancestry inference. However, the developed forensic assay based on the ancestry informative microhaplotypes in the BGAI remained to be comprehensively explored, especially in China with enriching genetic diversity. Here, we described a new BGAI panel based on 21 novel identified ancestry informative microhaplotypes that focused on dissected finer-scale ancestry composition of Chinese populations. We initially screened all possible microhaplotypes with high Fst values among five East Asian populations and finally employed 21 candidate microhaplotypes in two multiplex SNaPshot assays. Forensic amplification efficiency and statistically/physically phased haplotypes of the 21 microhaplotypes were validated using both SNaPshot and massively parallel sequencing (MPS) platforms. Followingly, we validated the efficiency of these microhaplotypes for BGAI in 764 individuals from ten Chinese populations. Fine-scale ancestry source and ancestry proportion estimated by the principal component analysis (PCA), multidimensional scaling (MDS), phylogenetic tree and model-based STRUCTURE among worldwide populations and East Asians showed that our customized panel could provide a higher discrimination resolution in both continental population stratification and East Asian regional substructure. East Asian populations could be further classified into linguistically/geographically different intracontinental subpopulations (Tibeto-Burman, Tai-Kadai and others). Finally, we obtained a higher estimated accuracy using training and tested datasets in the microhaplotype-based panel than traditional SNP-based panels. Generally, the above results demonstrated that this microhaplotype panel was robust and suitable for forensic BGAI in Chinese populations, which not only provided a high discriminatory power for continental populations but also discriminated East Asians into linguistically restricted subpopulations.

Front cover: A small NGS–SNP panel of ancestry inference designed to distinguish African, European, East, and South Asian populations

2020 ◽  
Vol 41 (9) ◽  
Author(s):  
Yu‐Xin Guo ◽  
Xiao‐Ye Jin ◽  
Zhi‐Yu Xia ◽  
Chong Chen ◽  
Wei Cui ◽  
...  
Keyword(s):  
South Asian ◽  
Front Cover ◽  
Asian Populations ◽  
Snp Panel ◽  
Ancestry Inference

Common Mutation of Plasminogen Detected in Three Asian Populations by an Amplification Refractory Mutation System and Rapid Automated Capillary Electrophoresis

1999 ◽  
Vol 82 (10) ◽  
pp. 1342-1346 ◽  
Author(s):  
Asako Ooe ◽  
Masafumi Kida ◽  
Tomio Yamazaki ◽  
Sang-Chul Park ◽  
Hideo Hamaguchi ◽  
...  
Keyword(s):  
Capillary Electrophoresis ◽  
Genetic Diagnosis ◽  
Amplification Refractory Mutation System ◽  
Common Mutation ◽  
Gene Frequencies ◽  
Chinese Populations ◽  
Asian Populations ◽  
Congenital Deficiency ◽  
Its Gene ◽  
Mutation System

SummaryCongenital deficiency and dysfunction of plasminogen (PLG) are associated with a mild thrombotic tendency. To facilitate the genetic diagnosis of dysPLGemia, we combined an amplification refractory mutation system and rapid automated capillary electrophoresis. Two different fluorescence-labeled PLG-specific primers for exon XV were designed so that each DNA amplified by PCR showed fluorescence of a different wavelength. Single peaks were detected for the normal and the mutant Ala601-Thr alleles, respectively. A study of 90 normal Caucasians revealed no individuals with the mutation, whereas its gene frequency was 0.021 in Japanese. This mutation was also detected in Korean and Chinese populations at gene frequencies of 0.016 and 0.015, respectively. All of the Korean and Chinese cases with the mutation had at least one haplotype I of the PLG gene, as did most Japanese cases. The high frequency of the Ala601-Thr mutation among these Asian populations may be due to the founder effect.

A small NGS–SNP panel of ancestry inference designed to distinguish African, European, East, and South Asian populations

2020 ◽  
Vol 41 (9) ◽  
pp. 649-656 ◽  
Author(s):  
Yu‐Xin Guo ◽  
Xiao‐Ye Jin ◽  
Zhi‐Yu Xia ◽  
Chong Chen ◽  
Wei Cui ◽  
...  
Keyword(s):  
South Asian ◽  
Asian Populations ◽  
Snp Panel ◽  
Ancestry Inference

EVALUATION OF OCCURRENCE OF HYPERDONTIA IN NON-SYNDROMIC POPULATION FROM BIHAR REGION

2019 ◽  
Vol 3 (10) ◽  
Author(s):  
Dr. Minti Kumari ◽  
Dr. Madhuri Kumari ◽  
Dr Anurag Rai ◽  
Dr. Navin Kumar
Keyword(s):  
Panoramic Radiograph ◽  
Permanent Dentition ◽  
Dental Anomalies ◽  
Supernumerary Teeth ◽  
Panoramic Radiographs ◽  
Future Studies ◽  
Asian Populations ◽  
Males And Females ◽  
The Individual ◽  
Clinical Records

It is evident that hyperdontia is more common in the permanent dentition than in the primary. There is a considerable difference between males and females in the prevalence of these teeth in permanent dentition; hyperdontia is twice as common in males as in females. However, this approximation varies in terms of location, other associating syndromes that may be present, and the ethnicity of the individual. In terms of ethnicity, it can be seen that hyperdontia is in fact less common in Caucasian than in Asian populations. There is evidence to show that an individual is more likely to have hyperdontia if other members of their family also have the condition. Hence the present study was planned for evaluation of occurrence of hyperdontia in non-syndromic  population from Bihar Region. The present study was planned in Public Health Dentistry, Patna Dental College and Hospital, Patna, Bihar. Total 195 patients referred to Department of Dentistry were evaluated in the present study. Panoramic radiographs and clinical records of patients above the age of 18 years and without any syndromic features were selected for the study.  All the radiographs were examined for the presence of supernumerary teeth, their location, morphology, and number. Morphologically, teeth were classified as conical, tuberculate, supplemental, and odontoma. Early diagnosis of dental anomalies can prevent some esthetic, orthodontic, and periodontal problems, and knowledge of the prevalence and distribution of the anomalies may help clinicians to the detection of these anomalies at early stages. Our study evaluated the prevalence of selected dental anomalies; future studies should investigate the prevalence of dental anomalies of all types. Keywords: Hyperdontia, non-syndromic, panoramic radiograph, supernumerary teeth, etc.

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