Distribution of tap1 and tap2 loci allelic and genotypic frequencies in Chinese Hans / 中国实验血液学杂志

This study was aimed to investigate the distribution and implication of tap1 (transporter associated with antigen processing) and tap2 loci allelic and genotypic frequencies. The distribution of tap1 and tap2 loci allelic and genotypic frequencies in 339 random samples of healthy Chinese Hans was analyzed by TaqMan PCR. Several genetic information about power of discrimination, cumulative DP, polymorphism information content, expected heterozygosity and observed heterozygosity were calculated. The results indicated that 5 tap1 alleles (tap1*0101, 020101, 020102, 0301 and 0401) and 4 tap2 alleles (tap2*0101, 0102, 0103 and 0201) were detected in all samples. 8 tap1 genotypes were found which account for 53.3% of the theoretic genotype and 6 tap2 genotypes were found which account for 60% of the theoretic genotype. The genotyping results of tap1 and tap2 both conform to the Hardy-Weinberg expectations (p > 0.05). Tap1*0101 (79.79%) and tap2*0101 (82.74%) are the most common alleles in Chinese Hans. It is concluded that tap1*0101 and tap2*0101 are most common alleles in Chinese Hans, tap1 and tap2 loci carry some power of individual discrimination and polymorphism information content. These two locl can be used for the research in the fields of human genetics, linkage analysis of genetic disease genes, paternity test and individual identification and so on.

Polymorphism of the human platelet alloantigens HPA-3 and HPA-9w in the Chinese Han population / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To study the polymorphism of human platelet alloantigens HPA-3 and HPA-9w in the Chinese Han population.</p><p><b>METHODS</b>A total of 1000 unrelated Chinese Han blood donors from different provinces of China were genotyped for HPA-3 and HPA-9w using PCR-sequence specific primer assay.</p><p><b>RESULTS</b>Gene frequencies of 1000 Chinese Hans for HPA-3a and HPA-3b were 0.5935 and 0.4065 respectively, and all of them were HPA-9a positive. The distributions of HPA-3, HPA-9w of Chinese Hans which detected by chi-square criterion fit Hardy-Weinberg equilibrium. There were significant differences of the HPA-3 alleles gene frequency between Guangdong province and other five investigated provinces which included Shanxi, Heilongjiang, Zhejiang, Yunnan and Jiangsu. In comparison to other ethnic groups, no significant differences were observed in the distributions of HPA-3 except the Vietnamese and Australian.</p><p><b>CONCLUSION</b>The results show that the chance of HPA-3 incompatibility were 0.3661 in random transfusion, and also provide a basis for researching on alloimmune thrombocytopenia and HPA-matched transfusion.</p>

Advances in the studies on human platelet alloantigen--review / 中国实验血液学杂志

Human platelet alloantigens (HPA) are specific antigens carried by platelet glycoproteins, which genes showing single nucleotide polymorphism. HPA can induce alloantibodies bringing about alloimmune response. They play important roles in post-transfusion refractoriness to platelets, post-transfusion thrombocytopenic purpura, fetomaternal alloimmune thrombocytopenia, and graft-versus-host disease. Because of their side effects in clinical blood-transfusion, there were a great deal of studies on HPA during last few decades. This review focuses on the nomenclature of HPA, the polymorphisms of platelet glycoproteins, HPA typing of the serological and molecular technology, as well as the mechanism of alloimmunization to HPA and correlated diseases.

The polymorphism distributions of MICA and MICB microsatellite in Guangdong Han population / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the genetic polymorphism of microsatellite in the exon 5 of MICA gene and the intron 1 of MICB gene in Guangdong Han population.</p><p><b>METHODS</b>One hundred and six samples of Guangdong Han population were genotyped by polymerase chain reaction and fluorescent technique (6-FAM). Gene frequency, power of discrimination, expected heterozygosity, polymorphism information content and probability of paternity exclusion were calculated.</p><p><b>RESULTS</b>The genotype distributions of MICA and MICB microsatellite met Hardy-Weinberg equilibrium. MICA A5 was the most common allele (0.2877), whereas A4 was the least popular one (0.1321). The genotype distribution frequencies of A5-5.1 (14.15%) and A5-5 (10.38%) are high. MICB CA14 was the most common allele (0.3255), and CA19,28 was the least popular one (0.0047). CA27 was not observed. The genotype distribution frequency of CA14-CA14(14.15%) is high.</p><p><b>CONCLUSION</b>The microsatellite of the exon 5 of MICA gene and the intron 1 of MICB gene could be used as the genetic markers of Chinese population in the studies of anthropology, linkage analysis of genetic disease genes, individual identification and paternity test in forensic medicine.</p>

The genetic characteristic of HLA-DRB1 locus in the Jiangsu-Zhejiang-Shanghai Han population and a comparison of its frequency distribution with that of other populations / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the genetic polymorphism of HLA-DRB1 locus in Jiangsu-Zhejiang-Shanghai Han population and analyze the characteristic of the allele frequency distribution in comparison with that of other populations.</p><p><b>METHODS</b>The technique of polymerase chain reaction-sequence specific primers (PCR-SSP) and reverse polymerase chain reaction-sequence specific oligonucleotide probe (PCR-SSOP) was adopted in genotyping a sample of 626 unrelated healthy individuals collected from a Chinese Han population in Jiangsu-Zhejiang-Shanghai area. HLA-DRB1*0101-1001, DRB3, DRB4 and DRB5 were detected. The allele frequency of HLA-DRB1 was calculated, and the allele frequency distribution of HLA-DRB1 in this population was compared with the results from other populations.</p><p><b>RESULTS</b>HLA-DRB1*0101, 0301, 0701, 09012, 1001, 1201, 1202, 1301/02, 1303/04, 1401/04/05, 1402/03/1305, 1501/02, 16021 and 04xx, 08xx were detected in Jiangsu-Zhejiang-Shanghai Han population. The common HLA-DRB1*allele included 09012(17.97%), 04xx(12.53%), 1202(11.42%) and 1501/02(11.02%). The polymorphism information content is 0.9024, and expected heterozygosity is 0.9634 in Jiangsu-Zhejiang-Shanghai Han population.</p><p><b>CONCLUSION</b>The HLA-DRB1 distribution of Jiangsu-Zhejiang-Shanghai Han population shares some genetic characteristic with other Han populations, but it exhibits its own characteristic, suggesting the intermediate state of this population between the southern and northern Han populations. The polymorphism of HLA-DRB1 of Jiangsu-Zhejiang-Shanghai Han population is the most abundant one in this study.</p>

Activation of random-donor platelet concentrates and platelet prepared from random-donor apheresis collections during storage / 中国实验血液学杂志

The activation of random-donor platelet concentrates and platelets prepared from random-donor apheresis collections (plateletpheresis) during storage were studied. Percentage of CD62p staining and mean channel fluorescence (MCF) of CD41 of two kinds of platelets during storage on day 0, day 1, day 3 and day 5 were determined by flow cytometry. The results showed that percentages of CD62p staining and MCF of CD41 in plateletpheresis were (18.91 +/- 6.25)%, (19.48 +/- 8.27)%, (22.82 +/- 6.06)%, (56.71 +/- 11.79)% and (8.09 +/- 2.38)%, (8.13 +/- 2.45)%, (8.44 +/- 2.51)%, (19.87 +/- 6.13)%, while the results of platelet concentrates were (30.65 +/- 12.33)%, (31.46 +/- 11.86)%, (32.51 +/- 13.05)%, (63.55 +/- 13.27)% and (10.33 +/- 4.37)%, (11.09 +/- 6.61)%, (13.46 +/- 9.69)%, (24.41 +/- 10.15)%, respectively. The platelet count and pH value were also determined. The platelet number, pH value, percentage of CD62p staining and MCF of CD41 had no significant difference within 3 days of platelet storage. The platelet number and pH value decreased significantly (P < 0.001), while percentages of CD62p staining and MCF of CD41 increased significantly (P < 0.001) on day 5 of storage. It is concluded that the quality of plateletpheresis is better than platelet concentrate.

Typing of HLA-AB by Reverse PCR-SSOP and Clinical Application / 中国实验血液学杂志

A rapid and accurate method of DNA typing for HLA was established to compensate the unsatisfactory serological typing for HLA before transplantation. DNA typing for HLA using by reverse polymerase chain reaction with sequence-spcific oligo probe (reverse PCR-SSOP) could detect HLA-A(*0101 - 8001) and B(*07021 - 8201). The results showed that HLA-AB alleles were successfully analysed in 60 matching subjects and 16 control DNAs from UCLA by reverse PCR-SSOP without false negtive and false positive results. The results were concordance with those of UCLA. The error rate of serological typing was 6.4% for HLA-A and 7.4% for HLA-B. The serological typing missed HLA-A24 and HLA-B46 for two patients with leukemia respectively. Our results suggest that DNA typing for HLA by reverse PCR-SSOP has proved to be a high-resolution, high-specificity, rapid and accurate technique, suitable for clinical application with a greater precision than serological typing.