西北地区汉族人群HLA-A、-B、-DRB1基因座单倍型分析

目的 分析西北地区汉族群体HLA-A、-B和-DRB1基因座等位基因频率和HIA-A-B、B-DRB1和A-B-DRB1单倍型，获得单倍型频率数据。方法 采用序列特异性寡核苷酸探针反向斑点杂交技术对西北地区62个家系和101个无关个体HLA-A、-B和-DRB1基因座进行基因分型，分析HLA单倍型。结果 在西北地区汉族人群中检出15个HLA-A等位基因，28个HLA-B等位基因，13个HLA-DRB1等位基因，A02、A11、A24、B13、B15、1340、DRB1＊04、DRB1＊07、DRB1＊09和DRB1＊15基因频率较高（〉10％），A02（0．3244）、B13（0．1200）和DRB1＊15（0．1400）等位基因频率最高。分析得出HLA-A-B、B-DRB1、A-B-DRB1单倍型分别有122、147和278种，83种A-B-DRB1单倍型有至少两条以上相同的单倍型，占总单倍型数的18．44％（83／450）。A30-B13-DRB1＊07、A02-B46-DRB1＊09、A01-B37-DRB1＊10、A24-B15-DRB＊15、A02-B46-DRB1＊08、A33-B58-DRB1＊03是最常见的单倍型。结论 西北地区汉族群体HLA单倍型多态性较为丰富，等位基因频率和单倍型频率数据可用于骨髓移植供者的选择、法医学亲权鉴定以及人类学研究。     

HLA-A, -B and -C allele and haplotype frequencies defined by next generation sequencing in a population of 519 English blood donors

Whole gene next generation sequencing was used to determine the HLA class I haplotype and allele frequencies in a cohort of 519 English blood donors. This is the first report of HLA frequencies at third field resolution in a UK population with a total of 33, 52 and 30 alleles identified for HLA-A, -B and -C, respectively. Of the 1411 haplotypes determined, 281 had a frequency of greater than 0.05%. Data are available from the Allele Frequencies Net Database under the population name ‘England Blood Donors of Mixed Ethnicity’, identifier 3392.     

HLA-A*2468, a new allele identified by sequence-based typing in the Chinese population

We report here the identification of a novel human leukocyte antigen-A*2468 allele that was detected by polymerase chain reaction sequence-based typing.     

Identification of a novel allele HLA-A*9206 by sequence-based typing in the Chinese population

A novel human leukocyte antigen-A*9206 allele was identified by sequence-based typing in China.     

Polymorphism of human leukocyte antigen-DRB1, -DQB1, and -DPB1 genes of Shandong Han population in China

In the present study, polymerase chain reaction-sequence-based typing (PCR-SBT) was used to analyze human leukocyte antigen (HLA)-DRB1, -DQB1, and -DPB1 alleles of 98 unrelated healthy Shandong Han individuals. A total of 60 alleles, in which 28 in DRB1, 15 in DQB1 and 17 in DPB1 were found. Among the 28 detected DRB1 alleles, DRB1*150101, DRB1*070101, DRB1*090102, DRB1*120201, and DRB1*080302 were commonly observed, with frequencies of 16.3%, 11.2%, 10.2%, 8.2%, and 5.6%, respectively. The most predominant DQB1 allele was DQB1*030101/0309 with the frequency of 20.4%, followed by DQB1*0201/0202 (14.8%), DQB1*0602 (14.3%), DQB1*030302 (12.2%), and DQB1*060101/060103 (10.7%). Of the 17 detected DPB1 alleles, DPB1*0501 was the most frequent allele with the frequency of 37.2%. DPB1*020102 (18.4%), DPB1*040101 (11.2%), DPB1*0402 (7.1%), and DPB1*1701 (6.6%) were also very frequent alleles. A total of 53 estimated DRB1-DQB1 two-locus haplotypes were observed in Shandong Han population, of which DRB1*150101-DQB1*0602 was the most predominant, followed by DRB1*090102-DQB1*030302, DRB1*070101-DQB1*0201/0202 DRB1*120201-DQB1*030101/0309, and DRB1*080302- DQB1*060101/060103. The distribution of the HLA class II alleles and haplotypes frequencies as well as the dendrogram showed that the Shandong Han population belongs to the northern group of Chinese. The data have implications for anthropological studies and disease associations.     

广东汉族人群HLA-B基因多态性研究

目的调查广东汉族人群HLA-B位点基因多态性，比较不同人群HLA—B等位基因频率分布特征。方法应用测序技术测定562名广东汉族人HLA-B位点第2、3、4外显子序列，比对数据库得到分型结果，计算HLA-B等位基因频率并与不同人群进行比较。结果共检测到59种HLA-B等位基因，其中6种等位基因频率≥5％，分别是HLA-B＊4601（14．5％），HLA-B＊400101（14．4％），HLA—B＊1502（11．5％），HLA—B＊1301（8．6％），HLA-B＊5801（8．1％）和HLA-B＊380201（6．4％）。这6种等位基因的等位基因频率合计为63．5％。同时，检测到30种等位基因频率〈0．5％的HLA-B等位基因，这30种等位基因的等位基因频率合计为4．9％。广东汉族人群HLA-B等位基因频率总体分布与中国香港华人、新加坡华人比较差异无统计学意义（P〉0．05），但与日本人比较差异有统计学意义。结论分析了HLA-B基因在广东汉族人群中的分布特征，提供了较完整的HLA-B等位基因频率分布资料，为遗传学及疾病相关性等研究提供了重要的参考数据。     

山西汉族人群HLA-A、-B、-DRB1基因多态性研究

目的 调查山西汉族人群HLA-A、-B、DRB1基因多态性，获得完整准确的遗传学数据。方法 应用聚合酶链反应，序列特异性引物方法对7440名健康、无血缘关系的山西汉族个体进行HLA—A、-B、-DRB1基因型检测，并与不同人群等位基因进行比较。结果 检出A等位基因18个，B等位基因40个，DRB1等位基因13个，其中A＊02、A＊24、A＊11、A＊01、A＊03、B＊13、B＊51、B＊15、B＊40、B＊35、DRB1＊15、DR＊09、DR＊1：2、DR＊04、DR＊07等位基因频率分布较高。结论 山西汉族人群HLA—A，-B，-DRB1基因具有中国北方汉族人群共有的遗传特征，但也有其自身的分布特点。     

HLA-A, -B, -C and -DRB1 allele and haplotype frequencies in the Macedonian population based on a family study

Aim

The aim of this study was to determine HLA allele and 2-, 3- and 4-loci haplotype frequencies in a sample from Macedonian population with defined haplotypes based on family history.

Identification of a novel allele HLA-A*9208 by sequence-based typing

A novel HLA-A*9208 allele was identified in a Chinese individual by polymerase chain reaction sequence-based typing.     

Distribution of HLA-A, -B, -Cw, and -DRB1 alleles and haplotypes in an isolated Han population in Southwest China

In this study, polymorphisms of human leukocyte antigen (HLA) class I (A, B, and Cw) and class II (DRB1) loci were analyzed in an isolated Han population living in Fengyandong in the Yunnan province of Southwest China (FYDH) using a high-resolution polymerase chain reaction–Luminex typing method. A total of 13 A, 26 B, 15 Cw, and 23 DRB1 alleles of HLA were found in FYDH. The frequencies of A*1101, A*0207, A*2402, B*4601, B*1502, Cw*0102, Cw*0801, DRB1*0901, and DRB1*1202 were >10%. The following haplotypes were common with frequencies >5%: three A-B, four Cw-B, two B-DRB1, two A-B-DRB1, three A-B-Cw, two B-Cw-DRB1, and two A-B-Cw-DRB1 phylogenetic tree and multidimensional scaling analysis based on HLA-A, -B, and -DRB1 allele frequencies of 18 Han populations suggested that FYDH was an isolated Han population, but the analytic result also provided a suggestion that FYDH was genetically related to Chinese Southern Han. According to the characteristics of the HLA allele and haplotype distributions and significantly reduced allelic and haplotypic diversity in FYDH, we deduced that genetic drift and/or selection and subsequent geographic isolation had influenced the distribution characteristics of the HLA gene in FYDH. In addition, significantly reduced allelic and haplotypic diversity in FYDH makes it an ideal homogenous population and very useful model for future investigations of issues related to immunogenetic diseases in the Han population.     

The search for HLA-matched donors: a summary of HLA-A*, -B*, -DRB1/3/4/5* alleles and their association with serologically defined HLA-A, -B, -DR antigens

This report summarizes data obtained from several large studies including the WHO HLA Nomenclature Committee, the International Cell Exchange, UCLA, the British Society for Histocompatibility and Immunogenetics Rare Cell Exchange and the National Marrow Donor Program and individual laboratories aimed at identifying a serologic type for specific HLA-A,-B,-DRB allelic products. Alleles that are poorly characterized at the serologic level are indicated and an approach is suggested for obtaining the information needed to clarify their serologic typing. The tables provided will be useful in guiding searches for an unrelated donor in which patient and/or potential donors are typed either by serology or by DNA-based methods and will provide a "dictionary" of potential equivalents between HLA "types" obtained by the two methods.     

HLA-A, -B, -C, -DRB1 and -DQB1 allele and haplotype frequencies in a population of 432 healthy unrelated individuals from Albania

This paper reports the HLA-A, -B, -C, -DRB1 and -DQB1 allele and haplotype polymorphism in a population of 432 healthy individuals from Albania. First-field HLA genotyping was performed by polymerase chain reaction sequence-specific priming and/or oligonucleotide methods. The data were analyzed statistically using gene counting and Arlequin software packages. No deviation from Hardy Weinberg Equilibrium was detected at any of the loci studied. The HLA genotypic data of the population sample reported here are available publicly in the Allele Frequencies Net Database and they can serve as a reference database for further HLA-based population genetics studies including the Albanian population.     

HLA-A, -B, -C,and -DRB1 genotyping and haplotype frequencies for a Hong Kong Chinese population of 7595 individuals

HLA-A, -B, -C and -DRB1 gene and haplotype frequencies have been calculated from 7595 southern Chinese unrelated donors in a Hong Kong Bone Marrow Donor Registry. This is the first large-scale paper to report the distribution of A-C-B-DRB1 alleles in Hong Kong Chinese. This information is important for phylogenetic, comparative studies and estimating the optimal and cost-effective donor size and likelihood of obtaining appropriately matched donors for Chinese patients awaiting haematopoietic stem cell transplantation. The allele and haplotype data are available in the Allele Frequencies Net Database under the population name ‘‘Hong Kong Chinese BMDR’’ and the identifier (AFND003357).     

HLA-A, -B and -DRB1 allele frequencies in the Bangladeshi population

Population genetic studies have become an invaluable tool because of the extreme polymorphism found at some of the loci of the human leukocyte antigen (HLA) system. In this study, we are reporting for the first time the genetic polymorphism of 141 healthy unrelated Bangladeshi Bangalees living in central region of Dhaka. We studied the HLA-A, -B and -DRB1 loci using polymerase chain reaction with sequence-specific primers. The allelic frequencies, two and three locus haplotype frequencies were statistically analyzed. A total of 16 HLA-A alleles, 26 HLA-B alleles and 14 HLA-DRB1 alleles were detected. A*33-B*44 (8.15%) was the most common two loci class 1 haplotype, whereas A*33-B*44-DRB1*07 (6.38%) was the most frequent three loci haplotype. The most common HLA-A, HLA-B and HLA-DRB1 alleles were A*33 (17.02%), B*15 (19.5%) and DRB1*15 (29.07%), respectively. Construction of phylogenetic tree using average linkage between groups and correspondence analysis showed close associations with Indian non-tribal random Dravidians, north Indian Hindus and some relations with Mongolian and Pakistani populations. We believe this data will provide useful information for bone marrow registry, legal medicine, disease association and anthropological studies.     

A new HLA-A*24 variant, A*2475, identified by sequence-based typing in the Korean population

A novel human leukocyte antigen (HLA) A*24 allele was identified in the Korean population and designated HLA-A*2475. The HLA-A*2475 allele shows one nucleotide difference from A*24020101 in exon 3 at nucleotide position 575 (T→C), resulting in an amino acid change, Leu168Arg.     

济南汉族人群HLA-A、B、DRB1等位基因高分辨多态性分析

目的 分析济南地区汉族人群人类白细胞抗原(human leukocyte antigens,HLA)-A、B、DRB1座位等位基因的高分辨多态性.方法 采用PCR-测序分型(PCR-sequence-based typing,PCR-SBT)对鲁南地区483名无血缘关系的汉族健康个体进行HLA-A、B、DRB1座位高分辨基因分型,采用Arlequin3.5软件计算等位基因频率、单倍型频率,并就常见等位基因与其他人群进行比较.结果 济南汉族HLA-A、B、DRB1座位分别检出27、56和41个等位基因,其中等位基因频率分布最高的分别是A* 11∶01 (0.1615)、B*13∶02(0.1163)和DRB1* 07∶01 (0.1763);最常见的A*-B*-DRB1*单倍型是A*30∶01-B* 13∶02-DRB1* 07∶01 (0.0867).结论 济南地区汉族人群HLA-A、B、DRB1等位基因和单倍型具有较高的多态性.     

应用SBT直接测序分型法研究中国南方汉族人群HLA五个基因座单倍型

目的 研究中国南方汉族人群HLA-A、B、Cw、DRBl、DQBl等位基因多态性及单倍型的分布特征.方法 应用聚合酶链反应-直接测序分型(polymerase chain reaction sequence-based typing,PCR-SBT)法对186名中国南方汉族健康人群HLA-A、B、Cw、DRBl、DQBl进行基因分型.结果 检出的HLA-A、B、Cw、DRBl、DQBl等位基因分别有28、49、24、29、20种.经统计分析A*0207-B*4601(10.81%),A*3303-B*5801(6.14%),B*4601-DRBl*0901(6.22%),B*4001*DRBl*0901(3.78%),DRBl*0901-DQBl*0303(12.16%)和DRBl*1202-DQBl*0301(8.38%)单倍型呈强连锁不平衡单倍型(RLF≥0.5,X<'2>>3.84,P<0.05);A*0207-B*4601-Cw*0102(10.75%),A*3303-B*5801-Cw*0302(5.14%),A*0207-B*4601-DR*0901(5.07%),A*3303-B*5801-DRBl*0301(2.96%),A*0207-B*4601-Cw*0102-DRBl*0901-DQBl*0303(4.87%)和A*1101-B*1301-Cw*0304-DRBl*1501-DQBl*0601(2.43%)单倍型分别是中国南方汉族人群常见单倍型.结论 中国南方汉族人群HLA 5个基因座单倍型分布具有高度的遗传多态性且有其自身分布特点.本研究获得的较完整的HLA 5个基因座单倍型分布数据,将为人类学、HLA疾病相关性和器官移植等研究提供遗传学参考数据.     

HLA class I (A, B, C) and class II (DRB1, DQA1, DQB1, DPB1) alleles and haplotypes in the Han from southern China

In this study, polymerase chain reaction-sequence-specific oligonucleotide prode (SSOP) typing results for the human leukocyte antigen (HLA) class I (A, B, and C) and class II (DRB1, DQA1, DQB1, and DPB1) loci in 264 individuals of the Han ethnic group from the Canton region of southern China are presented. The data are examined at the allele, genotype, and haplotype level. Common alleles at each of the loci are in keeping with those observed in similar populations, while the high-resolution typing methods used give additional details about allele frequency distributions not shown in previous studies. Twenty distinct alleles are seen at HLA-A in this population. The locus is dominated by the A*1101 allele, which is found here at a frequency of 0.266. The next three most common alleles, A*2402, A*3303, and A*0203, are each seen at frequencies of greater than 10%, and together, these four alleles account for roughly two-thirds of the total for HLA-A in this population. Fifty alleles are observed for HLA-B, 21 of which are singleton copies. The most common HLA-B alleles are B*4001 (f= 0.144), B*4601 (f= 0.119), B*5801 (f= 0.089), B*1301 (f= 0.068), B*1502 (f= 0.073), and B*3802 (f= 0.070). At the HLA-C locus, there are a total of 20 alleles. Four alleles (Cw*0702, Cw*0102, Cw*0801, and Cw*0304) are found at frequencies of greater than 10%, and together, these alleles comprise over 60% of the total. Overall, the class II loci are somewhat less diverse than class I. Twenty-eight distinct alleles are seen at DRB1, and the most common three, DRB1*0901, *1202, and *1501, are each seen at frequencies of greater than 10%. The DR4 lineage also shows extensive expansion in this population, with seven subtypes, representing one quarter of the diversity at this locus. Eight alleles are observed at DQA1; DQA1*0301 and 0102 are the most common alleles, with frequencies over 20%. The DQB1 locus is dominated by four alleles of the 03 lineage, which make up nearly half of the total. The two most common DQB1 alleles in this population are DQB1*0301 (f= 0.242) and DQB1*0303 (f= 0.15). Eighteen alleles are observed at DPB1; DPB1*0501 is the most common allele, with a frequency of 37%. The class I allele frequency distributions, expressed in terms of Watterson's (homozygosity) F-statistic, are all within expectations under neutrality, while there is evidence for balancing selection at DRB1, DQA1, and DQB1. Departures from Hardy-Weinberg expectations are observed for HLA-C and DRB1 in this population. Strong individual haplotypic associations are seen for all pairs of loci, and many of these occur at frequencies greater than 5%. In the class I region, several examples of HLA-B and -C loci in complete or near complete linkage disequilibrium (LD) are present, and the two most common, B*4601-Cw*0102 and B*5801-Cw*0302 account for more than 20% of the B-C haplotypes. Similarly, at class II, nearly all of the most common DR-DQ haplotypes are in nearly complete LD. The most common DRB1-DQB1 haplotypes are DRB1*0901-DQB1*0303 (f= 0.144) and DRB1*1202-DQB1*0301 (f= 0.131). The most common four locus class I and class II combined haplotypes are A*3303-B*5801-DRB1*0301-DPB1*0401 (f= 0.028) and A*0207-B*4601-DRB1*0901-DPB1*0501 (f= 0.026). The presentation of complete DNA typing for the class I loci and haplotype analysis in a large sample such as this can provide insights into the population history of the region and give useful data for HLA matching in transplantation and disease association studies in the Chinese population.     

湖南北部汉族人群MICA/B基因多态性研究

目的 研究MICA/B等位基因在湖南北部汉族人群中的分布特点.方法 采用PCR-SSP(PCR-sequence-specific primers)方法和PCR-SBT(PCR-sequence-based typing)方法对95名无亲缘关系的个体进行MICA/B基因分型.结果 在湖南北部汉族人群中共检测到11个MICA等位基因,频率最高的依次为MICA *010 (28.95％)、MICA *008∶01(20.53％)和MICA* 002∶01(15.79％);共检测到5种STR(short tandem repeat)型别,其中MICA* A5 (37.89％)和MICA* A5.1(21.05％)频率最高.在湖南北部汉族人群中共检测到10个MICB等位基因,以MICB* 005∶02/010最常见(58.42％),其他较常见的等位基因有MICB* 002∶01(10.00％)、MICB* 008 (7.89％).在湖南北部汉族人群中,单倍型MICA* 004-MICB* 004∶01与MICA* 010-MICB* 005∶02/010具有显著的连锁不平衡.将MICA/B基因在湖南北部汉族人群中的分布与该基因在其他人群中的分布进行比较,显示MICA/B基因的分布在不同人群之间存在差异.结论 湖南北部汉族人群有自己独特的分布特征.     

HLA-A, -B, -DRB1, -DQA1, and -DQB1 polymorphism in thais

In this study we examined HLA-A, -B, -DRB1, -DQA1, and -DQB1 gene, allele, and haplotype frequencies in two ethnic Thai populations. We compared these frequencies to the known HLA class I and II allele profiles of non-Thai mainland and insular Southeast (SE) Asians. HLA-A locus gene and allele frequencies, are comparatively homogeneous in both Thai and non-Thai SE Asians. In contrast, HLA-B, -DRB1, -DQA1, and -DQB1 gene and allele frequencies, show more ethnic and geographic variation in SE Asians. Conserved haplotypes, or combinations of linked HLA class I and II alleles were detected in Thais, but at relatively low frequencies. It would appear that ethnic Thais, reflect an admixture of peoples from both the northern mainland and southern island groups of SE Asia.