Analysis on Polymorphism of Platelet Antigen Gene in Shandong Han Population / 中国实验血液学杂志

OBJECTIVE@#To study the Polymorphism of the human platelet antigen(HPA) gene 1-17 and human leukocyte antigen(HLA) gene-A and B locus in Shandong Han population.@*METHODS@#A total of 962 samples from routine voluntary platelet donors were genotyped for HPA1-17 system and HLA-A site, B by PCR-SSP and PCR-SSOP respectively．Gene frequencies were calculated by counting. HPA1-17 and HLA genotype combinations were analyzed by Arelequin 3.5.@*RESULTS@#The gene frequencies of HPA-la, -1b, HPA-2a, -2b, HPA-3a, -3b, HPA-4a, -4b, HPA-5a, -5b, HPA-6a, -6b, HPA-15a, -15b were 0.9918, 0.0082, 0.9419, 0.0592, 0.5841, 0.4174, 0.9969, 0.0031, 0.9892, 0.0108, 0.9835, 0.0175,0.5488 and 0.4512, respectively． The most common HPA genotype combination was HPA-(1, 2, 4, 5, 6, 7-14, 16, 17) aa-3ab-15ab (0.2048). Moreover, HLA-A*2(0.3094) and HLA-B*13(0.1513) showed the highest frequency in their respective locus. The most common HLA genotype combination was HLA-A*2-B*13(0.1397) .@*CONCLUSION@#Distributions of HPA and HLA show high polymorphism in Shandong Han population. The ethnic and territorial difference of HPA distribution is also confirmed. It is imperative to establish local genetic database of volunteer platelet donors.

Identification of a novel HLA allele, HLA-DRB1*03:80, by sequencing-based typing / 中国实验血液学杂志

This study was aimed to identify a novel HLA-DRB1 allele from a Chinese potential hemopoietic stem cell donor of Northeast China. A rare HLA-DRB1 allele was initially detected by Luminex PCR-SSO typing, then the sample was sequenced by sequence-based typing (SBT) and the alignments of sample's alleles was identified by single allele-specific sequencing strategy. The results revealed the existence of a new allele which differs from the closest matching allele DRB1*03:06 by a single nucleotide substitution at position 239, where C→G in exon 2, resulting in an amino acid exchange from Thr to Arg at codon 51. It is concluded that a novel allele has been confirmed and its name DRB1*03:80 is officially assigned by the WHO Nomenclature Committee in February 2012.

Identification of a novel HLA allele HLA-B*55:35 / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To identify a novel human leukocyte antigen (HLA) B allele and explore its family heritage.</p><p><b>METHODS</b>A novel HLA allele was suspected upon routine HLA typing using a polymerase chain reaction-sequence specific oligonucleotide probe (PCR-SSOP) assay. The sequence was confirmed with DNA sequencing and compared with its closest matching allele, B*55:02. The family was also investigated.</p><p><b>RESULTS</b>An unusual reaction pattern was detected during routine HLA typing. The sequence was confirmed to be a novel HLA-B allele, which differed from the closest matching allele, B*55:02 in 7 nt positions in exon 2. Among the 7 mutations from 6 codons, there were two amino acids changes including 69Glu→Met and 70Glu→Ala.</p><p><b>CONCLUSION</b>A novel HLA-B allele has been identified and officially named as B*55:35 by the WHO Nomenclature Committee for Factors of the HLA System (GenBank accession number FJ898284).</p>

Identification of a novel HLA allele, HLA-B*35:03:07, by sequencing-based typing / 中国实验血液学杂志

This study was purposed to analyze and identify a novel HLA allele in Chinese population. A new HLA-B allele which is closely related to HLA-B*35:03:01 was initially detected by PCR-SSOP, then DNA sequencing was performed to identify the difference between the novel allele and HLA-B*35:03:01 allele. The result showed that the sequence of the new allele was different from all other known sequence. It differs from the closest matching HLA-B*35:03:01 by a single substitution at position 387 C→G in exon 3, no resulting in amino acid change. It is concluded that this allele is a novel one and has been officially named B*35:03:07 by the WHO Nomenclature Committee.

Analysis of HLA-A, B, and DRB1 polymorphism and genetic distance in Han population living in Yantai and Weihai regions of Shandong province / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate allelic and haplotypic polymorphisms of human leukocyte antigen(HLA) genes at A, B and DRB1 loci in Yantai and Weihai Han population and analyze the genetic relationship between Yantai, Weihai Han population and other populations.</p><p><b>METHODS</b>A total of 4062 unrelated Han ethnic individual from Yantai and Weihai regions were genotyped by polymerase chain reaction-sequence specific olignucleotide probe(PCR-SSOP) for HLA-A, B and DRB1 loci. Allelic and haplotypic frequencies were estimated by maximum likelihood estimation method using Arlequin 3.5 software. Genetic distances were computed, and phylogenetic tree was constructed using Mega5.0 software.</p><p><b>RESULTS</b>Respectively 18, 33 and 13 alleles were observed at HLA-A, B and DRB1 loci. The most frequent alleles were HLA-A*02(0.2935), HLA-B*15(0.1485) and HLA-DRB1*15(0.1621). And the most common three loci haplotype was A*30-B*13-DRB1*07(0.0649). A*33-B*58, A*66-DRB1*13 and B*08-DRB1*03 showed the strongest linkage disequilibrium. Yantai and Weihai Han population has the shortest genetic distance with Jilin Han population (0.0034).</p><p><b>CONCLUSION</b>The HLA-A, B and DRB1 loci are highly polymorphic in Han population from Yantai and Weihai, and this population has closest relationship with Han population from Jilin province.</p>

Identification of a novel allele HLA-DRB1*1219 / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To identify a novel HLA DRB1 allele in a Chinese leukemia family.</p><p><b>METHODS</b>A new HLA-DRB1 allele was initially detected by polymerase chain reaction-sequence specific primer and unusual reaction pattern by Luminex RSSO, then DNA sequencing was performed to identify the sequence of the novel allele.</p><p><b>RESULTS</b>The DNA sequencing revealed the presence of the new allele which differs from the closest matching HLA-DRB1*120201 by a single nucleotide substitution at position (341 C > T in exon 2), resulting in an amino acid change from Ala to Val at coden 85.</p><p><b>CONCLUSION</b>A novel allele was confirmed by DNA sequencing and has been designated HLA-DRB1*1219 by the WHO Nomenclature Committee.</p>

Identification of a novel HLA allele HLA-B*40:96 / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To identify a novel human leukocyte antigen (HLA) allele in Chinese and investigate its inheritance in the family.</p><p><b>METHODS</b>Exceptional reaction pattern was detected in HLA-B locus in HLA typing using Luminex DNA polymerase chain reaction with sequence specific oligonucleotide probe hybridization (PCR-SSOP) assay. A confirmatory test for the novel HLA allele was performed by DNA sequencing based typing of the proband's family.</p><p><b>RESULTS</b>The DNA sequence was confirmed to be a novel HLA B allele. There were 7 nucleotides which differed from the closest matching HLA B*40:06:01 at positions 302(G to A), 309(G to C), 311(A to C), 313(C to G), 314(T to C), 317(G to T), and 319(G to C) in exon 2, which resulted in 5 amino acid changes at codon 101 (Ser to Asn), 104 (Asn to Thr), 105 (Leu to Ala), 106 (Arg to Leu), and 107 (Gly to Arg), respectively. Family investigation indicated that the novel allele was transmitted from the proband's father.</p><p><b>CONCLUSION</b>A novel HLA B allele was identified and officially named as HLA-B*40:96 (GenBank accession No. FJ374890) by the WHO Nomenclature Committee for Factors of the HLA System.</p>

HLA-A, B and DRB1 polymorphism at high-resolution in Han population from southern area of Shandong province in China / 中国实验血液学杂志

This study was aimed to analyze the polymorphism of HLA-A, B, DRB1 alleles at high-resolution level in Han population from southern area of Shandong province in China. 688 randomly selected, unrelated and healthy individual from southern area of Shandong province were genotyped for HLA-A, -B and HLA-DRB1 loci by PCR-SBT. Then, allelic and haplotypic distributions of HLA-A, B and DRB1 were estimated by maximum likelihood estimation method using Arlequin 3.0. The results indicated that a total of 31 HLA-A, 63 HLA-B and 39 HLA-DRB1 alleles were identified in Han Population from southern area of Shandong province. Six HLA-A alleles were found with a frequency greater than 0.05 (A*24:02, *30:01, *11:01, *02:01, *33:03 and *02:06), with a cumulative frequency of 0.7223. For HLA-B locus, there were also six alleles which had a frequency higher than 5% (B*1302, *4403, *5101, B*4601, *1501 and *5801), representing 0.4432 of the all alleles in the population. And four HLA-DRB1 alleles were defined as predominant (DRB1*0701, *1501, *0901and *0803), accounting for 0.5453 of the defined alleles. The most common three-loci haplotype was A*30:01-B*13:02-DRB1*07:01 (0.1151) and the most frequent two-loci haplotype were A*30:01-B*13:02 (0.1303), A*30:01-DRB1*07:01 (0.1157) and B*13:02-DRB1*07:01 (0.1307). It is concluded that the allelic and haplotypic diversities of HLA-A, -B and HLA-DRB1 at high-resolution in Han population from southern area of Shandong province in China provide useful information for HLA matching in transplantation and diseases-associated study in this population.