Polymorphisms at HLA-A,-B,-DRB1 loci in Dalian Han population / 中国免疫学杂志

Objective:To investigate the polymorphisms at HLA-A,-B,-DRB1 loci in Dalian Han population. Methods: A total of 10 000 unrelated marrow donors who live in Dalian were genotyped by SBT and SSO methods. Haplotype frequencies and linkage dis-equilibrium values were calculated by ARLEQUIN software,and DA genetic distances between populations were calculated by poptree2 software. Results: A total of 18 HLA-A alleles, 32 HLA-B alleles and 13 HLA-DRB1 alleles were found in Dalian Han population. HLA-A?02 (31. 65% ),B?40(14. 84% ) and DRB1?15(15. 82% ) occurred most frequently. A?30-B?13-DRB1?07 (4. 56% ) was determined to be the most common three-locus haplotype and the second predominant haplotype was A?02-B?46-DRB1?09 ( 2. 43% ) . A ?30-B ?13 ( 6. 00% ) and B ?13-DRB1 ?07 ( 59. 89% ) were the most common two-locus haplotypes. Moreover,A?33-B?58 and B?13-DRB1?07 were strongest haplotypes with the linkage disequilibria values 0. 336 6 and 0. 665 1,respectively. In China,the closest genetic distances were found with Heilongjiang (0. 001) followed by Jilin (0. 002) and Shandong (0. 002),the furthest was found with Taiwan (0. 047). Compared with other populations worldwide,the closest genetic distances were found with Thailand (0. 029) and Korea (0. 03),the furthest was found with Italy (0. 183). Conclusion: Dalian Han population had rich polymorphism at HLA-A,-B,-DRB1 loci,and the distribution of HLA-A,-B and-DRB1 was in line with the charac-teristics of the northern population.

A Bw12 blood type caused by 278C>T mutation of ABO gene / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To determine the serotype and genotype of a sample with ABO blood group discrepancies.</p><p><b>METHODS</b>Serotype was determined with serological method. Sequence specific primer polymerase chain reaction (SSP-PCR) was carried out based on the serotype. Sequences of exons 6 and 7 of ABO gene was analyzed by sequence-based testing (SBT).</p><p><b>RESULTS</b>Completely agglutinated A antigen, half agglutinated B antigen and weak agglutinated anti-B antibody were detected in both erythrocytes and serum, which suggested presence of a ABw serotype. An A/Bw12 genotype was revealed by B subgroup detection. Sequences of exons 6 and 7 were 278CT, 297GA and 467CT, 526CG, 657CT, 703GA, 796CA, 803GC, 930GA, respectively. The genotype fit with A102/B101 except for a nt278 C>T mutation. Blood group antigen gene mutation database (BGMUT) search has confirmed the mutant allele to be Bw12.</p><p><b>CONCLUSION</b>An A102/Bw12 genotype has been found in the Chinese population.</p>

Study on genetic polymorphisms of 13 SNP loci in Guangxi Zhuang population of China / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>The fluorescence labeled multi-PCR system was applied to investigate the allele frequency of the 13 single nucleotide polymorphism (SNP) in 314 Guangxi Zhuang populations, and to evaluate their application value in forensic medicine.</p><p><b>METHODS</b>Thirteen autosomal diallelic SNP loci were selected and the SNP genotyping system of fragment length discrepant allele specific fluorescence labeled multi-PCR technique was applied to investigate their allele frequency distribution in Guangxi Zhuang population.</p><p><b>RESULTS</b>The allele frequencies of the 13 single nucleotide pdymorphism (SNP) in Guangxi Zhuang population were obtained, which shows that the allele frequency distribution is in accordance with Hardy-Weinberg equilibrium. Their heterozygosity was between 0.2166 and 0.5478, the polymorphism information content was between 0.2084 and 0.3750, their cumulate discrimination probability was 99.99%, and the cumulate exclusion power was 87.71%.</p><p><b>CONCLUSION</b>Several SNP loci could be genotyped simultaneously using the fluorescence labeled fragment length discrepant multiplex-PCR technique; the 13 SNP loci have a highly applicable value in the field of forensic personal identification.</p>

Detecting ABO blood type of bloodstain with fluorescent antibody method / 法医学杂志

UNLABELLED@#OBJECTIVE To explore the advantage and feasibility of fluorescent antibody method for detection of blood type in biological material.@*METHODS@#According to theory of specific binding of antigen and antibody, at first the anti-A monoclonal antibody (MA) and anti-B MA were labeled with the fluorescent, then fluorescent-labeled antibodies (FLA) were bound with corresponding biological material (such as bloodstain) in the optimum condition, finally the ABO blood type of bloodstain was determined under microscope fluorescent.@*RESULTS@#The fluorescent antibody method is highly sensitive, accurate and simple.@*CONCLUSION@#The fluorescent antibody method is an accurate and reliable method for detection of ABO blood type in biological material.