Humans ; Waldenstrom Macroglobulinemia/genetics* ; East Asian People ; Chromosome Aberrations ; Lymphoma

Humans ; East Asian People ; Genetic Profile ; Mutation ; Osteochondrodysplasias/genetics*

Asian People/genetics* ; Gene Frequency ; Genetics, Population ; Humans ; Microsatellite Repeats/genetics* ; Phylogeny ; Polymorphism, Genetic/genetics*

OBJECTIVE: To investigate the polymorphism of the TPH gene T3792A locus in Han ethnic group of north China and its application value in forensic science. METHODS: The polymorphism of T3792A locus of the TPH gene was analyzed by the ASPCR of blood samples from 173 unrelated individuals of north Chinese Han population. RESULTS: The distribution of the T3792A locus polymorphism of the TPH gene in Han ethnic group of north China followed the Hardy-Weinberg law, with the allele A and T gene frequency of 0.486 and 0.514, respectively. CONCLUSION The TPH gene T3792A locus shows a very good genetic polymorphism, and may be applied to individual identification and paternity testing.
Asian People/genetics* ; China/ethnology* ; Forensic Genetics ; Gene Frequency ; Humans ; Paternity ; Polymorphism, Genetic ; Tryptophan Hydroxylase/genetics*

The tetranucleotide repeat locus D7S809 was investigated in Cantonese population by polymerase chain reaction (PCR) amplification, subsequent polyacryramide gel electrophoresis and silver staining. 14 alleles and 50 genotypes were detected in 190 sample individuals. All alleles differed in size by 4 bp repeat. No interalleles were found. The heterozygosity, power of discrimination and chance of non-paternal exclusion were 0.8613, 0.9645 and 0.7184 respectively. No significant deviations from Hardy-Weinberg equilibrium were found. The D7S809 was a highly polymorphic, stable and accurate type locus and had been successfully applied to 100 paternity test cases.
Alleles ; Asian People/genetics* ; Gene Frequency ; Genetics, Population ; Genotype ; Humans ; Microsatellite Repeats/genetics* ; Paternity ; Polymorphism, Genetic

Objective To explore the genetic background and structure of Urumqi Mongolians, the previously developed 39-AIM-InDels panel for ancestry inference was utilized in the present study. Methods The blood samples of 145 unrelated healthy Urumqi Mongolian individuals were collected and genotyped. The compositions of ancestry information of Urumqi Mongolians were studied with 17 different populations from three continents （East Asia, Europe and Africa） as reference populations. Then, multiple population genetics and bioinformatics analysis methods were applied, the Fst and DA values between matched populations were compared and analyzed, PCA analysis was performed and a phylogenetic tree was constructed. The proportions of ancestry information components of Urumqi Mongolians were analyzed with Structure software, etc. Results The ancestry information components of Urumqi Mongolian group in different intercontinental populations accounted for 89%, 7%, and 3% of East Asian, European, and African populations, respectively. Compared with other intercontinental populations, Urumqi Mongolian group and East Asian populations have lower Fst and DA values, and they were in the same cluster in PCA analysis as well. In a phylogenetic tree, the Urumqi Mongolian group was in the same branch as East Asian populations. Conclusion Urumqi Mongolian group had relatively close genetic relationships with East Asian populations, and the proportion of its East Asian ancestry was about 89%.
Asian People/genetics* ; Forensic Genetics ; Gene Frequency ; Genetics, Population ; Humans ; INDEL Mutation ; Phylogeny ; Polymorphism, Single Nucleotide

Objective To investigate the allele distribution, population genetics parameters and genetic analysis of neighboring populations of 19 autosomal STR loci in Sichuan Han population, and to evaluate their forensic application value. Methods The Goldeneye?? DNA ID system 20A was used to perform multiplex PCR amplification and allelic gene typing of 19 STR loci in 1 201 unrelated Han individuals from Sichuan Province. Allele frequencies and population genetics parameters were calculated. The Nei's genetic distances between Sichuan Han population and 12 previously reported populations were analyzed. Multidimensional scaling and principal component analysis were carried out and phylogenetic trees were also constructed. Results The heterozygosity of 19 STR loci ranged from 0.617 0 to 0.915 1, their discrimination power ranged from 0.777 4 to 0.986 5, matching probability ranged from 0.013 5 to 0.222 6, polymorphism information content ranged from 0.546 4 to 0.910 5, probability of exclusion ranged from 0.311 8 to 0.826 3 （triplet） and from 0.197 9 to 0.712 1 （biplet）, and no significant deviations from Hardy-Weinberg equilibrium were observed. Based on the results of multidimensional scaling, principal component analysis and phylogenetic trees of the genetic distances between Sichuan Han population and the other 12 populations, Sichuan Han population was closest to Hubei Han population and was farthest to Xinjiang Uygur population. Conclusion The 19 autosomal STR loci showed a high polymorphism and discriminating ability in Sichuan Han population, which can provide a data foundation for personal identification, paternity test and population genetics study.
Asian People/genetics* ; China ; Ethnicity/genetics* ; Gene Frequency ; Genetics, Population ; Humans ; Microsatellite Repeats ; Phylogeny ; Polymorphism, Genetic

OBJECTIVES: To provide a guideline for genealogy inference and family lineage investigation through a study of the mismatch tolerance distribution of Y-STR loci in Chinese Han male lineage. METHODS: Three Han lineages with clear genetic relationships were selected. YFiler Platinum PCR amplification Kit was used to obtain the typing data of 35 Y-STR loci in male samples. The variation of Y-STR haplotypes in generation inheritance and the mismatch tolerance at 1-7 kinship levels were statistically analyzed. RESULTS: Mutations in Y-STR were family-specific with different mutation loci and numbers of mutation in different lineages. Among all the mutations, 66.03% were observed on rapidly and fast mutating loci. At 1-7 kinship levels, the number of mismatch tolerance ranged from 0 to 5 on all 35 Y-STR loci, with a maximum step size of 6. On medium and slow mutant loci, the number of mismatch tolerance ranged from 0 to 2, with a maximum step size of 3; on rapidly and fast mutant loci, the number of mismatch tolerance ranged from 0 to 3, with a maximum step size of 6. CONCLUSIONS Combined use of SNP genealogy inference and Y-STR lineage investigation, both 0 and multiple mismatch tolerance need to be considered. Family lineage with 0-3 mismatch tolerance on all 35 Y-STR loci and 0-1 mismatch tolerance on medium and slow loci can be prioritized for screening. When the number of mismatch tolerance is eligible, family lineages with long steps should be carefully excluded. Meanwhile, adding fast mutant loci should also be handled with caution.
Male ; Humans ; Haplotypes ; Chromosomes, Human, Y/genetics* ; Microsatellite Repeats ; Mutation ; Asian People/genetics* ; China ; Genetics, Population

Humans ; East Asian People ; Intellectual Disability/genetics* ; Membrane Transport Proteins/genetics* ; Lectins/genetics*

OBJECTIVE: The genetic polymorphism of two STR loci, D20S85 and D6S477, were studied in 280 unrelated Chinese individuals in Wuhan. METHODS: The PCR amplified products were analyzed by PAGE and silver staining. RESULTS: 10 and 9 alleles were observed in these two STR loci, and the discriminating power (DP) were 0.9085 and 0.9127 respectively. No deviations from Hardy-Weinberg equilibrium were found. The two STR loci had been successfully applied to individual identification and paternity testing. CONCLUSION The results demonstrated that the two loci were useful for forensic identification.
Alleles ; Asian People/genetics* ; China ; Forensic Medicine ; Gene Frequency ; Humans ; Polymorphism, Genetic ; Tandem Repeat Sequences/genetics*