Study on the population genetic structure and phylogenetic relationship of the Han population in Dalian / 中国法医学杂志

Objective To study the population genetic structure and phylogenetic relationships by combining Y-STR haplotype genetic information from the Han population in Dalian with 32 domestic and foreign groups.Methods Blood samples of 958 Han male volunteers from Dalian were collected.Genetic typing of 42 genetic loci was completed using Y-STR fluorescent reagent kits and capillary electrophoresis.Related forensic parameters were calculated.Nei's standard genetic distances among 33 populations based on 17 Y-STR loci were computed,in order to create a principal coordinate analysis as well as construct a phylogenetic tree.Results The analysis of genetic polymorphisms at 42 Y-STR loci revealed 30 unconventional alleles at 10 loci.Genetic analysis of the population based on 17 Y-STR loci confirmed that Dalian's Han population had the closest genetic distance to the Anshan's Han population,followed by populations from Henan,Heilongjiang,Jilin,Shandong,and Chongqing.Furthermore,the genetic distances between the Han population in Dalian and the Qiang population in Beichuan or the Miao population in Guizhou were relatively closer than that to the Manchu population living in Liaoning.Conclusion The genetic distance between the Han population in Dalian and other groups is not entirely proportional to ethnicities and geographical proximity.Both population migration and ethnic assimilation or isolation may have influence on it.

Genetic characteristics of spouse selection based on short tandem repeats in DNA and lunula count on fingertip.

OBJECTIVE: The aim of this study was to assess the correlation of spouse selection with short tandem repeats (STRs) in DNA and with the number of fingertip lunulae to investigate the role of heredity in spouse selection. METHODS: We randomly selected a total of 286 couples (husband and wife) as a couple group while 200 paired subjects (a man randomly matched with a woman as a pair of subjects) were selected as a non-spouse group for DNA typing, and to investigate lunulae in spouse selection, a total of 554 couples were selected as a couple group and 500 pairs of subjects were selected as a control group. RESULTS: A significant difference of STR matching number (a large value implies a higher genetic similarity) between spouse group and non-spouse group were observed (12.3 ± 2.7 vs. 11.8 ± 2.6; p < 0.05). A significant difference of the lunula matching number (difference of lunula counts between a paired subjects, a lower value implies a higher genetic similarity) between two groups were also observed for the lunula counts (1.55 ± 1.88 vs. 3.53 ± 2.40; p < 0.01). CONCLUSION: Significant and unprecedented relationships were found between the couples and polymorphic STRs, and between spouse selection and lunula counts. Polymorphic STRs and fingertip lunulae counts provide an initial insight into the potentially important contributions that genetic characteristics may play a key role in spouse selection.

Molecular biologicalstudy of DEL in RhD-negative blood donors, Dalian / 中国输血杂志

【Objective】 To study the frequency, Rh phenotypes and molecular & biological background of D-elute (Del) phenotype in RhD-negative blood donors in Dalian. 【Methods】 A total of 355 serologically RhD-negative samples between November, 2018 and October, 2019 in Dalian Blood Center were collected, and tested for RhC, c, E, e phenotypes using monoclonal antibodies and anti-D adsorption/elution test. DNA was extracted by magnetic bead selection. RHD 1227G>A mutation was detected by melting curve analysis. All RHD exons were sequenced by Sanger sequencing. 【Results】 Among 355 serologically RhD-negative blood donors, 55 (15.5%) were identified as Del and the remaining 300 cases (84.5%) were true RhD negative. Ccee (45/55, 81.8%) was the predominant Rh phenotype among 55 Del cases while ccee (210/300, 70.0%) was the most prevalent Rh phenotypes in 300 true RhD negative cases. In 55 Del cases, 51 (92.7%) had RHD 1227G>A mutation, and the other 4 cases(7.3%) had mutations in other sites. 【Conclusion】 The frequency of Del was 15.5% in serologically RhD-negative blood donors in Dalian, with Ccee being the most prevalent Rh phenotype and RHD 1227G>A the most common gene mutation.

Correlation between human platelet antigen polymorphisms and platelet parameters / 中国输血杂志

【Objective】 To investigate the correlation between human platelet antigens (HPA) polymorphisms and platelet parameters. 【Methods】 The HPA-2, HPA-3, HPA-5 and HPA-15 genotypes of 139 healthy Chinese Han individuals were detected using TaqMan-MGB probe real-time PCR, while platelet parameters including platelet count (PLT), mean platelet volume (MPV), platelet distribution width (PDW) and platelet-large cell ratio (P-LCR) were measured using hematology cell analyzer. 【Results】 The PLT was significantly lower in the individuals with HPA-2aa genotype compared to those with HPA-2ab [(234.35±50.10)×103/μL vs (269.58±41.66)×103/μL, P<0.05], while the PLT was significantly higher in individuals with HPA-5aa and HPA-15aa genotypes compared to those with HPA-5ab and HPA-15ab/bb [HPA-5: (239.36±49.81)×103/μL vs (200.29±48.02)×103/μL; HPA-15: (251.00±58.41)×103/μL vs (231.29±45.20)×103/μL, P<0.05], respectively. The MPV, PDW and P-LCR were significantly lower in individuals with HPA-5aa genotype compared to those with HPA-5ab [mpv: (10.01±0.72)fL vs (10.94±1.01)fL; PDV: (11.94%±1.35%) vs (14.25%±2.78%); P-LCR: (25.32%±5.03%) vs (31.73%±6.39%), P<0.05], but did not differ among the HPA-2 and HPA-15 genotypes. Besides, no significant differences in platelet parameters of individuals with HPA-3aa and HPA-3ab/bb genotypes were notable(P>0.05). HPA-2, -5 and -15 polymorphisms were identified as independent factors for platelet count, and HPA-5 polymorphism was an independent factor for platelet volume, revealed by multiple linear regression analysis. 【Conclusion】 HPA-2, -5 and -15 polymorphisms are correlated with platelet count, and HPA-5 polymorphism is correlated with platelet volume.

Novel association analysis between 9 short tandem repeat loci polymorphisms and coronary heart disease based on a cross-validation design.

OBJECTIVE: To investigate genes associated with coronary heart disease (CHD) screened with a novel cross-validation design. METHODS: On the basis of age at the onset of the first episode of CHD, stratified sampling by age (<50 years, 50-59 years, 60-69 years, 70-79 years and >80 years) was performed. Alleles of the nine CODIS STR loci including D3S1358, vWA, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317, and D7S820, were determined using the STR Profiler Plus PCR amplification kit. Allele frequencies were compared with a control population. The mean age of patients with and without the alleles was compared. Cross-validation was based on differences in both frequency values and ages instead of adjustment procedure for multiple testing. RESULTS: There were statistical differences in frequency values between the CHD group and the control population for three alleles, and also statistical differences in the age at first onset of CHD for two alleles; at least one allele, D21S11-28.2, was statistically different with regards to both frequency values and age. It was confirmed that D21S11-28.2 is truly related with CHD. CONCLUSIONS: A single true CHD-related allele could be discriminated from the sampling errors through cross-validation. It appears that CHD-related genes may be located near to loci D21S11.

Variations in short tandem repeats deduced on the basis of the number of repeats and the relationship of these variations with longevity.

The objective of this study was to investigate the quantitative characteristics of short tandem repeat (STR) variations deduced on the basis of the number of STRs that are beneficial for human survival. The longevity group included 60 nonagenarian subjects, and the control group included 250 reference adults (age, 20-50 years). Alleles of 15 Combined DNA Index System STR loci were determined using a commercial polymerase chain reaction kit. An STR with the highest frequency distribution in a population (control group) was considered as a conservative STR, and the number of core unit repeats of this STR allele was considered as the median repeat number in the STR locus (STRm). The absolute difference between the STRm and the number of core unit repeats of other STR alleles can be considered as the quantitative marker of variation for that particular STR allele (M value). The mean M values of CSF1TPO in the longevity group were significantly higher than those in the control group (P < 0.05). These findings appear to suggest that at least one of the STR loci may be associated with longevity. The M value of STR may be a new and high-efficacy genetic marker.

Polymorphism of microsatellite DNA vWA in random population and schizophrenic patients / 中国组织工程研究

BACKGROUND: Schizophrenia is substantially heritable, but specific susceptibility genes remain difficult to be identified. Therefore, it is necessary to explore hereditary markers first.OBJECTIVE: To investigate the relationship between schizophrenia and related vWA allele genes based on the analysis of microsatellite DNA vWA polymorphism.DESIGN: A case-controlled study with schizophrenic patients and randomly selected population as subjects.SETTING: Ward of Dalian Seventh People's Hospital and Molecular Biological Laboratory of Dalian Medical University.between March and July 2002 at Dalian Seventh People's Hospital which specializes in schizophrenia. Schizophrenia was diagnosed according to the diagnostic standard of the third edition of "the American Diagnostic Statistical Manual for Schizophrenic Diseases", and their clinical manifestations were predominantly negative signs. Altogether 123 normal blood samples were collected from random population at the Blood Center of Dalian Red Cross. They all denied psychological ailments and severe systematic diseases, and they had no kinship with each other.METHODS: Heparin anti-coagulation blood samples were collected and PCR compound amplification was carried out with the aid of PE Profiler plus system. Then the products were subjected to electrophoresis and gene detection with ABI310 type gene analysis system so as to calculate the frequency of allele genes; Hardy-Weinberg equation law was used to make coincidence test and linkage analysis of the theoretical frequency and actual one. Schizophrenic patients and random population were compared and relative risk was calculated with RR=Pd × (1-Pc)/Pc × (1-Pd) in order to assess the statistical significance (RR: relative risk; Pd: gene frequency of schizophrenia; Pc: gene frequency of random population). RR ＞ 1 was considered of higher susceptibility while RR ＜ 1 was considered of anti-susceptibility. In this way, we could find out vWA allele genes that had susceptible linkage or anti-linkage with schizophrenic related genes.MAIN OUTCOME MEASURES: Major outcome: Correlation analysis of vWA allele genes in schizophrenic patients and random population. Secondary outcome: The coincidence of vWA allele gene frequency in patients with schizophrenia and random population with what was calculated by Hardy-Weinberg law.RESULTS: Data of the two groups were processed according to the objective and statistically analyzed.① vWA allele gene frequency in patients with schizophrenia and in random population was found to coincide with HardyWeinberg law(P ＞ 0.05).② The positive rate of vWA-14 in schizophrenic patients (17.2%) was obviously different from that in random population (33.3%) (RR=0.415, P=0.014). The positive rate of vWA-17 in schizophrenic patients (31.3%) was found to be significantly higher than that in random population (19.5%) (RR=1.866, P=0.043) while it did not differ significantly in other allele genes (P ＞ 0.05).CONCLUSION: The positive rate of vWA-14 was significantly lower in schizophrenic patients than in random population, indicating that vWA-14locus may be negatively selected in schizophrenia due to some reasons,which may be approximate to anti-schizophrenia genes. Moreover, the higher expression of vWA-17 in schizophrenic patients than in random population suggests that vWA-17 locus is correlated with schizophrenia,which may be approximate to schizophrenia-susceptibile genes.