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

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.

Comparing the accuracy of Demirjian and Nolla methods and establishing a new method for dental age estimation in northeastern Chinese children

Dental age estimation plays an important role in the field of clinic medicine and forensic medicine.The Demirjian and Nolla methods are common scoring methods for dental age estimation but there was no research about the comparison of accuracy of these two methods in northeastern Chinese children.Hence,in this study,we compared the accuracy of these two methods to explore more suitable method for our studied population.We collected 535 orthopantomograms from northern Chinese children aged from 6 to 15 years and divided them into training dataset and testing dataset according to the ratio of 7:3.The dental age of training dataset were estimated using Demirjian and Nolla methods,respectively.The results suggested that the mean differences of these two methods were 0.24 and−0.40 years,and mean absolute difference were 0.65 and 0.59 years.Then to further improve the accuracy of dental age assessment,the new improved formulas and dental age conversion tables were established after analyzing the relationship between the sum scores based on Nolla method and chronology age in training dataset.According to the new method used in testing dataset,the minimum value of mean difference(0.00)and mean absolute difference(0.49)were obtained,which are largely smaller than that of Demirjian and Nolla methods.The new developed method and dental age conversion scales may be more suitable dental age estimation method for northeastern Chinese children.

Genetic Polymorphisms of 22 Novel Autosomal Short Tandem Repeat Loci in Sierra Leone Population

Background:Exploring and identifying novel alleles of noncombined DNAIndex System(CODIS)short tandem repeat(STR)loci in different ethnic groups is important for the establishment of forensic reference databases and study of population genetics.Aim:This study is aimed to explore the genetic polymorphism of 22 non-CODIS autosomal STR loci(D6S477,D18S535,D19S253,D15S659,D11S2368,D20S470,D1S1656,D22-GATA198B05,D8S1132,D4S2366,D21S1270,D13S325,D9S925,D3S3045,D14S608,D10S1435,D12S391,D7S3048,D17S1290,D5S2500,D2S1338,and D16S539)in Sierra Leone population and analyze the population genetic relationships in comparison with otherpopulations.Materialsand ethods:The amples of a total of 495 unrelated individuals(274 females and 221 males)from Sierra Leonewere examined by the Microreader^(TM)23SPID System,and their genetic polymorphisms and associated forensic parameters were calculated.The genetic relationships between Sierra Leonepopulation and other populations were evaluated as well.Results:Atotal of 287 alleles were observed with allelic frequencies ranging from 0.001 to 0.399.The cumulative power of discrimination(CPD)of the 22 autosomal STR loci was 0.99999999999999999999999999999538.The cumulative probability of exclusion(CPE)of the 22 autosomal STR loci was 0.9999998514(CPEdous)and 0.9999999999826(CPEtrios).All of the STR loci reached the Hardy–Weinberg equilibrium after Bonferroni correction.The population genetics analysis results demonstrated that Sierra Leone population exhibited distinctive genetic characteristics compared to those of East Asian populations and it had relatively close genetic distances to the Uygur population.Conclusion:The results of this study could enrich the forensic databases with Sierra Leone population.The 22 STR loci are highly polymorphic and could be used for forensic practice and population genetics studies.