Genetic polymorphisms of 20 autosomal STR loci in the Han population of Zhangzhou City,Southeastern China

China harbors 56 ethnic groups and Han is the largest population. It is informative and useful to explore the available population genetic characteristics of Chinese Han population from Fujian Province, Southeast China. In our study, we explored the genetic characteristics of 20 autosomal Short tandem repeat (STR) loci in 1555 unrelated Chinese Han individuals from Zhangzhou City, Southeastern China using the SureID® 21G Human STR Identification Kit. Moreover, phylogenetic analysis was performed between the Zhangzhou Han population and other relevant populations based on the shared autosomal STR genotyping. The neighbor-joining tree and multidimensional scaling analysis were analyzed based on the Nei’s standard genetic distance. We found 262 alleles among 1555 unrelated individuals and the corresponding allele frequencies ranged from 0.5521 to 0.0003. The combined power of discrimination and exclusion of the 20 autosomal STR loci were 0.99999999999999999999999943 and 0.999999996166537, respectively. Population comparison revealed that the Zhangzhou Han population were lining up together with the southern Han populations in China while showed significant differences from other China populations. Our results found that the 20 autosomal STR loci in Zhangzhou Han population are meaningful for forensic medicine and human genetic. The genetics characteristic of Zhangzhou Han population is similar with the southern Han population in China.     

Population data and forensic efficiency of 21 autosomal STR loci included in AGCU EX22 amplification system in the Wanzhou Han population

Autosomal short tandem repeats (STRs), widely distributed in the whole human genome, play an important role in personal identification and parentage testing. In this study, the allele frequencies and forensic efficiency parameters of 21 autosomal STR loci included in the AGCU EX22 kit were obtained from 433 Chinese Han individuals residing in the Wanzhou District in the north of Chongqing Municipality, Southwest China. No deviation from Hardy-Weinberg equilibrium was observed in all of the 21 STR loci. A total of 241 alleles were observed with allele frequencies ranging from 0.0011 to 0.5418. The cumulative power of discrimination and the cumulative probability of exclusion were 0.9999999999999999999999999 and 0.999999996, respectively. The results of genetic distance, neighbor-joining tree, principal component plots, and multidimensional scaling analysis revealed that the Wanzhou Han had more genetic differences when compared with Kazakh and Uyghur populations from Xinjiang than other included reference populations. In summary, the results in forensic characteristic analyses indicated that the 21 STRs are highly polymorphic and can be served as a useful tool in forensic routine practices. The population comparison indicated that close geographic or ethnic origin groups had a strong genetic affinity with each other.

     

新生儿病理性黄疸的ABO血型相关性研究

目的　研究鲁中南地区汉族人群的新生儿病理性黄疸ABO血型抗原分布状况。方法　采用血型群体遗传学及血型血清学方法 ,选择鲁中南地区汉族新生儿病理性黄疸 2 5 8例 ,进行ABO血型表现型及基因频率分布调查。结果　通过测算分析 ,取得以下主要数据 :( 1 )血型表现型频率顺序B >A >O >AB ,基因频率r>q>p。 ( 2 )新生儿病理性黄疸发生的相对危险率 :B型为 1 3 2 1 7,A型为 1 1 5 61 ,O型为 0 745 7,AB型为 0 3 41 2。结论　新生儿病理性黄疸的ABO血型分布与鲁中南地区汉族人群ABO血型的抗原分布特征存在显著性差异 ,其发病的危险因素之一是具备单一A ,B抗原者 ,而不具备单一A ,B抗原者则为负危险因素。     

Forensic characteristics and phylogenetic analysis of both Y-STR and Y-SNP in the Li and Han ethnic groups from Hainan Island of China

Hainan Island is the southernmost and smallest Chinese province, isolated from the mainland. The Li and Han ethnic groups account for over 98% of the population on the island. However, the Li ethnic group is an indigenous community of Hainan Island, with great differences in culture, language and origin with respect to the Han, the largest ethnic group. Here, we studied these two ethnic groups from the perspective of the Y-chromosome single nucleotide polymorphisms (Y-SNPs) and short tandem repeats (Y-STRs) to unravel their forensic and phylogenetic characteristics. A total of 302 unrelated male samples from the Li and Han ethnic groups in Hainan Island were genotyped by a combination of three separate typing systems (next-generation sequencing and pyrosequencing for the Y-SNPs and capillary electrophoresis for the Y-STRs), a previously developed high-resolution panel containing 141 Y-SNPs and 27 Y-STRs. The haplotype diversity of the Li ethnic group reached 0.9997, and 49 terminal haplogroups were observed in the Li and Han ethnic groups. Haplogroup O1b1a1a1a1a1b-CTS5854 was the most predominant haplogroup, including 44.12% of Li individuals. Median-joining trees showed little gene flow between the Li and Han individuals, as well as between the Li and other ethnic groups in Hainan Island. Our results indicated that 1) in contrast with the Han ethnic group, a low degree of genetic diversity was observed in the Li ethnic group; 2) there was limited gene flow between the Li and Han ethnic groups; and 3) founder effect was identified in the Li ethnic group in Hainan Island.     

Genetic polymorphisms of 16 X-STR loci analyzed in the Han population of Yunnan Province,Southwest China

To investigate the genetic diversity and forensic identification efficiency of X-chromosomal short tandem repeats (X-STRs) in the Yunnan Han population, 16 X-STRs in 415 Yunnan Han individuals (247 males and 168 females) were studied. A total of 137 alleles were detected, and all loci in the Yunnan Han population were highly polymorphic. The combined discrimination of males (PDm) and females (PDf) was 0.9999997769115 and 0.999999999999999999996, respectively. Interpopulation comparisons between the Yunnan Han population and 21 other populations showed that the evolutionary relationships between different groups with the same ethnic group or nearby geographic origins were closer. This study provides the first data on X-STR genetic polymorphisms in the Yunnan Han population and enriches the X-STR database for the Chinese Han population.     

高原缺氧环境对世居藏族和移居汉族胎儿生长发育的影响

目的:通过比较高原世居藏族产妇与移居汉族产妇胎盘重量、新生儿体重和胎盘系数,了解高原环境对世居藏族和移居汉族胎儿生长发育的影响。方法:收集、检测和比较生活在海拔3480m高原的世居藏族和移居汉族初产妇分娩的胎盘重量、新生儿体重及胎盘系数,并与平原汉族新生儿出生体重比较;比较移居高原汉族初产妇和经产妇分娩的胎盘重量、新生儿体重及胎盘系数。结果:移居汉族初产妇新生儿低体重出生率显著高于世居藏族(P<0.01);世居藏族初产妇胎盘重量与移居汉族初产妇无显著差别(P>0.05)、新生儿体重高于汉族,差异有显著性(P<0.01);移居汉族初产妇胎盘系数显著高于世居藏族(P<0.05)。移居汉族初产妇胎盘重量和胎盘系数显著高于移居汉族经产妇(P<0.01),二者新生儿出生体重差别无显著性(P>0.05);藏族新生儿体重与平原汉族新生儿出生体重无显著差别(P>0.05);结论:移居汉族产妇,尤其是初产妇,在高原分娩的新生儿体重低于世居藏族和平原汉族,胎盘系数显著高于世居藏族,说明高原环境影响移居汉族胎儿宫内的生长发育。因此,有必要进一步探索高原环境对移居汉族胎儿生长发育的影响机制,以利于加强移居者围产期保健,降低高原缺氧环境对移居者胎儿生长发育的不良影响。     

Population structure of Han nationality in Central-Southern China

Knowledge of population structure is very important for forensic genetics. However, the population substructure in Central-Southern China Han nationality has still not been fully described. In this study, we investigated the genetic diversity of 15 forensic autosomal STR loci from 6879 individuals in 12 Han populations subdivided by administrative provinces in Central-Southern China. The statistical analysis of genetic variation showed that genetic differentiation among these populations was very small with a F_st value of 0.0009. The Discriminant Analysis of Principal Components (DAPC) showed that there were no obvious population clusters in Central-Southern China Han population. In practice, the population structure effect in Central-Southern China Han population can be negligible in forensic identification and paternity testing.     

南方汉族人群慢性荨麻疹与幽门螺杆菌感染的关系研究

目的探讨幽门螺杆菌感染(HP)与南方汉族人群慢性荨麻疹(CU)发病的相关性及临床意义。方法采用~(13)C呼气试验检测60例南方汉族CU患者和50例健康对照者,将伴发HP感染的47例CU患者,用随机数字表法分为A、B两组,A组患者采用CU标准治疗联合抗HP标准三联疗法治疗;B组患者采用抗过敏治疗,2个月为1个疗程,比较每组患者经治疗后的病情转归状况。结果 CU患者中感染HP的共有47例,而健康人组中有30例,两组患者的HP感染率比较,差异有统计学意义(P<0.05)。经过2个月的治疗,A组的治疗总有效率为86.95%,完全缓解率为58.3%,与B组比较有明显的优势,两组比较差异有统计学意义(P<0.05)。结论南方汉族人群患CU与HP感染有一定的关联性,用联合抗HP的方法对HP(+)的CU患者进行治疗,可在短期提高CU的治疗效果并提高其远期缓解率。     

Forensic features and genetic structure revealed by 47 individual identification InDels in the Shaanxi Han population

Insertion/deletion (InDel) polymorphism genetic marker is a powerful and prospective tool for human identification and population genetic studies. Considering that the genetic polymorphisms and ethnic background of the Shaanxi Han population have not been fully explored to this day, herein, the novel developed AGCU InDel 50 kit which included 47 autosomal InDels was applied in the 556 unrelated healthy Han individuals from Shaanxi province for the first time. There were no significant deviations from Hardy–Weinberg equilibrium and linkage equilibrium at the 47 InDels after Bonferroni correction. In the Shaanxi Han population, the values of combined discrimination power and cumulative exclusion probability for the 47 InDels were 0.999999999999999999891 and 0.99966, respectively. Furthermore, the interpopulation comparisons and population genetic structure analyses based on the 47 InDels were performed among the Shaanxi Han population and 43 reference populations, and the results showed that the Shaanxi Han population exhibited similar genetic structure and closer genetic affinities with the East Asian populations.     

27 Y-chromosomal STR haplotypic structure for the Chinese Han population from Changchun,Northeastern China

Y- Changchun is the capital and largest city of Jilin Province in the northeast China. In this study, we genotyped and investigated haplotypes of 27 Y-STR loci in 1037 Changchun Han male individuals using commercially available AmpFlSTR Yfiler® Plus kit. We calculated the Gene diversity (GD) values and haplotype diversity (HD) as important forensic parameters. Furthermore, we observed genetic affinities between Changchun Han with other Northern Han Chinese populations and also Korans in Yanbian in the Multidimensional scaling and phylogenetic tree analysis.     

Forensic characteristics and phylogenetic analysis of Hubei Han population in central China using 17 Y-STR loci

Currently, the largest national database within the Y chromosome haplotype reference database (YHRD, https://yhrd.org, release 53) is China, which has approximately 38000 Y chromosomal 17-marker (Yfiler) haplotypes. These haplotype profiles derived from the vast majority of Chinese administrative divisions, but no haplotype data was available for Hubei province, which is located in the Central China region. Herein, 429 unrelated male Chinese Han individuals residing in Hubei province were recruited and genotyped with 17 Y-STR loci. 115 alleles were identified with corresponding allele frequencies spanned from 0.0023 to 07506. The gene diversity (GD) values ranged from 0.3988 at DYS438 to 0.9573 at DYS385a/b. A total of 410 distinct haplotypes were obtained with the overall haplotype diversity (HD) and discrimination capacity (DC) was 0.9995 and 0.9557, respectively. Additionally, genetic relationships along administrative (Han Chinese from different provinces) and ethnic divisions (minority ethnic groups) were analyzed using analysis of molecular variance (AMOVA) tests and visualized by multidimensional scaling plots (MDS). The Han ethnicity including the Hubei Han shows a high genetic homogeneity all across China and significant genetic differences existed between the Hubei Han and some ethnic groups, most prominently for the Kazakhs and the Tibetans.     

Population genetics of 30 insertion/deletion polymorphisms in Han Chinese population from Zhejiang Province

Insertion/deletion (InDels) markers can serve as a useful supporting tool to short tandem repeat (STR) typing systems for human identification. The Qiagen DIPplex Investigator kit, which contains 30 biallelic autosomal InDels and amelogenin, has been developed for forensic use. To estimate the genetic diversity of the 30 markers in Han Chinese individuals living in Zhejiang and to further evaluate their applicability in forensic science, 246 unrelated Han Chinese from Zhejiang were genotyped at these loci. No significant departures from Hardy-Weinberg equilibrium were observed at these loci in these participants. The combined power of discrimination was over 0.99999999 and the combined probability of exclusion was over 0.9901. Results demonstrated that the 30 InDel markers could be used as a supporting tool for the human identification of specific Han Chinese individuals from Zhejiang. The genetic differences and phylogenetic relationships among Han Chinese from Zhejiang, Han Chinese from five other areas, nine minority ethnic groups, as well as two other East Asian populations were also investigated. Two InDel markers, HLD39 and HLD40, showed significant allele-frequency differences between Han Chinese from Zhejiang and ethnic minorities. Further analysis can be used to evaluate their role in forensic science.     

Genetic polymorphisms and mutation rates of 16 X-STRs in a Han Chinese population of Beijing and application examples in second-degree kinship cases

As a supplementary tool in forensic cases, X chromosomal short tandem repeats (X-STRs) might bridge large pedigree gaps and bring inspiration to forensic practices for the special mode of inheritance. To standardize the application of X-STRs, the DNA Commission of the International Society for Forensic Genetics (ISFG) presented recommendations concentrating on biostatistical evaluations. Following this guideline, in this study, 1247 (655 females and 592 males) unrelated individuals and 770 families originating from a Han Chinese population of Beijing were investigated with 16 X-STRs. The combined PDF and PDM were 0.999999999999994 and 0.999999997, respectively. The combined MECKrüger, MECKishida, MECDesmarais, and MECDesmarais duo were 0.999972736708864, 0.999999975670766, 0.999999975720931, and 0.999993489709197, respectively. In addition, a population comparison demonstrated that genetic heterogeneity widely exists between the Han population of Beijing and other populations, especially southern Han Chinese, European, and West African populations. Additionally, the overall mutation rates of the paternal and maternal germlines of the 16 X-STRs were 0.0021 and 0.0003, respectively. Among them, HPRTB showed the highest paternal mutation rate of 0.0094. Finally, based on these forensic parameters, the likelihood ratios of four second-degree kinship cases were evaluated. Comparing with autosomal STR, X-STR showed significant advantages for hypothesis exclusion. Our study indicated that the 16 X-STR loci are highly polymorphic in the Han population of Beijing and could be a satisfactory complimentary tool for forensic applications.     

Association of common variants in NOS1AP gene with sudden unexplained nocturnal death syndrome in the southern Chinese Han population

Here, we investigate the association of common polymorphisms of the NOS1AP gene with sudden unexplained nocturnal death syndrome (SUNDS) in the southern Chinese Han population. We genetically screened five common NOS1AP polymorphisms (rs10918594, rs12143842, rs16847548, rs12567209, and rs10494366) previously reported to be associated with QT interval variation and sudden cardiac death (SCD) in 123 sporadic SUNDS cases and 166 healthy controls using polymerase chain reaction (PCR) and direct DNA sequencing. In the present study, the A allele of rs12567209 was more common in controls than in SUNDS cases, which was associated with 0.656-fold decreased risk of SUNDS (95 % confidence interval 0.431 to 0.998, P?=?0.048) compared with G allele. Under the dominant genetic model, GA + AA genotype of rs12567209 was also more common in controls than in SUNDS cases, which was associated with 0.604-fold decreased risk of SUNDS (95 % confidence interval 0.368 to 0.991, P?=?0.045) compared with GG genotype. No significant associations of rs10918594, rs12143842, rs16847548, and rs10494366 with SUNDS were observed (P?>?0.05). In haplotype analyses, the distribution of haplotype GCTA was significantly overrepresented in controls compared to SUNDS cases (P?=?0.040). This is the first report of the association of common NOS1AP polymorphisms with SUNDS in the southern Chinese Han population. These findings suggest that the A allele of rs12567209 and haplotype GCTA may serve as a protective modifier.     

Population genetic data of the NGM SElect STR loci in Chinese Han population from Zhejiang region, China

Genetic variations of the 17 NGM SElect STR loci in Chinese Han samples from the Zhejiang region were analyzed. The results show that the NGM SElect is a highly genetic informative system in Zhejiang Han, and this population shows quite different genetic data from other major populations in the world with the exception of the Fujian Han.     

Population data of 19 autosomal STR loci in the Li population from Hainan Province in southernmost China

In the present study, population data of 19 autosomal STR loci included in the Goldeneye™ DNA ID System 20A in 653 Li individuals was obtained and population genetic relationships among 13 populations were investigated. MDS and phylogenetic analysis suggested that the Hainan Li population kept a close genetic relationship with the Chinese Han populations, especially for Southern Han populations (Guangdong Han, Sichuan Han, and Hunan Han). Our results indicated that the 19 autosomal STRs are highly discriminative and polymorphic in the Hainan Li population suitable for personal forensic identification and paternity testing.

     

A hypervariable STR polymorphism in the CFI gene: Southern origin of East Asian-specific group H alleles

Previous studies of four populations revealed that a hypervariable short tandem repeat (iSTR) in intron 7 of the human complement factor I (CFI) gene on chromosome 4q was unique, with 17 possible East Asian-specific group H alleles observed at relatively high frequencies. To develop a deeper anthropological and forensic understanding of iSTR, 1161 additional individuals from 11 Asian populations were investigated. Group H alleles of iSTR and c.1217A allele of a SNP in exon 11 of the CFI gene were associated with each other and were almost entirely confined to East Asian populations. Han Chinese in Changsha, southern China, showed the highest frequency for East Asian-specific group H alleles (0.201) among 15 populations. Group H alleles were observed to decrease gradually from south to north in 11 East Asian populations. This expansion of group H alleles provides evidence that southern China and Southeast Asia are a hotspot of Asian diversity and a genetic reservoir of Asians after they entered East Asia. The expected heterozygosity values of iSTR ranged from 0.927 in Thais to 0.874 in Oroqens, higher than those of an STR in the fibrinogen alpha chain (FGA) gene on chromosome 4q. Thus, iSTR is a useful marker for anthropological and forensic genetics.     

Haplotype diversity and phylogenetic relationship analysis of Chinese Yulin Han population using 59 Y-STR loci of two novel Y-STR typing systems

To investigate the genetic polymorphisms of 59 Y-chromosomal short tandem repeat (Y-STR) loci in the Yulin Han population, 229 unrelated healthy male individuals were analyzed using AGCU Y37 kit and AGCU Y-SUPP Plus kit. A total of 227 different haplotypes were obtained at the 59 Y-STR loci. Among them, 225 haplotypes were unique and 2 haplotypes occurred twice. The overall haplotypic diversity and discrimination capacity were 0.9999 and 0.9913, respectively. The phylogenetic relationships between the studied Yulin Han population and 17 previously reported reference populations were evaluated via multidimensional scaling and Neighbor-Joining analyses based on the haplotypic frequencies of ‘YHRD Maximal Loci’. Phylogenetic analysis revealed that Yulin Han population was closely related to Chinese Han and Hunan Yao populations. These results demonstrated that the 59 Y-STR loci were useful for forensic applications and population genetic studies.     

重庆地区驾驶员血液中乙醇浓度与驾驶能力的关系

目的　探讨重庆地区驾驶员血液中乙醇浓度 (BAC)和驾驶能力的关系 ,为交通安全立法提供科学依据。　方法　随机选择重庆地区 59名驾驶员志愿者 ,建立饮酒后驾车模型、科学的BAC测定以及驾驶能力评价体系 ,对不同BAC下驾驶能力进行测评。　结果　受试者出现驾驶能力损害时的BAC均数为 685.9mg/L ,最小值 190 .0mg/L ,最大值 152 0 .0mg/L ,总体均数 95%可信区间为 60 2 .4～ 70 9.5mg/L。汉族和土家族间、汉族男性和女性间、2 3～ 3 5岁和 3 6～ 56岁年龄组间差异无显著性意义 (P >0 .0 5) ,而既往饮酒量不同的三个组别间差异有显著性意义 (P <0 .0 5)。随着BAC增高 ,驾驶能力受损人数增加。在 2 0 0 .0mg/L有 3 % (2 / 59)的受试者驾驶能力降低 ,80 0 .0mg/L则达到 68% (40 / 59)。　结论　随着BAC增高 ,重庆地区驾驶员驾驶能力受损人数比例增加 ,出现驾驶能力明显损害时BAC为 60 2 .4～ 70 9.5mg/L ,既往酒量较大人群中该值较高     

Forensic characteristics and genetic analysis of both 27 Y-STRs and 143 Y-SNPs in Eastern Han Chinese population

Y-chromosome short tandem repeat (Y-STR) and Y-chromosome single nucleotide polymorphism (Y-SNP) frequency distributions provide resources for assessment of male population stratification among world-wide populations. Currently, the Y-STR Haplotype Reference Database (YHRD) contains numerous Y-chromosome haplotype profiles from various populations and countries around the world. However, for many of the recently discovered and already phylogenetically mapped Y-SNPs, the population data are scarce. Herein, the typing of 27 Y-STRs (Yfiler Plus) and 143 Y-SNPs (self-designed Y-SNP panel) was performed on 1269 unrelated males from 11 Han Chinese populations. Haplogroup O-M175 was the most predominant haplogroup in our Han Chinese data, ranging from 67.34% (Henan Han) to 93.16% (Guangdong Han). The highest haplogroup diversity (0.967056) was observed in Heilongjiang Han, with a discrimination capacity (DC) value of 0.3723. The number of alleles at single-copy loci varied from 2 for DYS391 (Guangdong Han) to 16 for DYS518 (Henan Han). For the majority of the populations (8/11), both the haplotype diversity and DC values are 1.0000. Furthermore, genetic differentiations were observed between Northern and Southern Han Chinese. These genetic differences were mainly reflected in haplogroup distribution and frequency, and they were confirmed by statistical analysis.