ABSTRACT
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.
Subject(s)
Humans , ATP Binding Cassette Transporter, Subfamily B, Member 2 , ATP-Binding Cassette Transporters , Genetics , ATP Binding Cassette Transporter, Subfamily B, Member 3 , Alleles , Asian People , Genetics , Gene Frequency , Genotype , HaplotypesABSTRACT
<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>
Subject(s)
Humans , Alleles , Antigens, Human Platelet , Genetics , Allergy and Immunology , Asian People , Genetics , China , Ethnology , DNA , Genetics , Ethnicity , Genetics , Gene Frequency , Genotype , Histocompatibility , Genetics , Polymorphism, GeneticABSTRACT
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.
Subject(s)
Humans , Antigens, Human Platelet , Classification , Allergy and Immunology , Isoantibodies , Allergy and Immunology , Platelet Membrane Glycoproteins , Genetics , Polymorphism, Single Nucleotide , Transfusion ReactionABSTRACT
<p><b>OBJECTIVE</b>This is a study on some ABO subgroup samples which show discordant results of serological and molecular blood typing, the aim is to clarify their true ABO type by means of nucleotide analysis on exons 6 and 7 of their ABO gene.</p><p><b>METHODS</b>Absorb-elution test and family investigation were conducted to study 7 samples which were involved in ABO grouping discrepancies. Duplex polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) method was used to identify their ABO genotypes. PCR products of exons 6 and 7 were cloned and sequenced.</p><p><b>RESULTS</b>All the 7 ABO subgroup samples with the discordant results of serological and molecular blood typing were found to have the normal O gene. Four out of them were typed as ABsub by serology, they were all of the A*102/O genotype. Sequencing analysis found all their A gene having the nt467 (C-->T) and nt803 (G-->C) mutation by comparison with the A*101 allele, i.e. their real type should be CisAB/O. Three out of 7 were typed as AsubB by serology and as BO by genotype; and point mutation was detected in all of their B gene. One of them had the nt700 (C-->G) mutation, the other 2 unrelated individuals had the novel nt640 (A-->G) mutation in their B alleles.</p><p><b>CONCLUSION</b>Through nucleotide analysis, 7 samples have been typed as AB subgroup in serology with the normal O gene, their real ABO type being CisAB in 4 cases and B(A) in 3 cases. At the same time, a kind of novel B (A)640 allele has been uncovered in this study.</p>