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【Objective】 To study the distribution and haplotype polymorphism of HLA-A, -B, -C, -DRB1, -DQB1 alleles in Anhui Han population. 【Methods】 The HLA-A, -B, -C, -DRB1 and -DQB1 genotyping of 3 169 random unrelated stem cell donors was performed by PCR-SBT. The allele frequency, haplotype frequency and linkage imbalance parameters were calculated by counting method, maximum expectation algorithm and PyPop software. 【Results】 A total of 411 HLA alleles were detected in the population, of which 67, 143, 65, 75 and 64 alleles were detected for HLA-A, -B, -C, -DRB1 and -DQB1, respectively. The alleles with frequency >0.1 were HLA-A*11∶01, A*11∶01, A*24∶02, A*02∶01, C*01∶02, C*07∶02, C*06∶02, DRB1*09∶01, DRB1*15∶01, DRB1*07∶01, DQB1* 03∶01, DQB1* 03∶03, and DQB1*02∶01. 1426 HLA-A~HLA-B, 1 772 HLA-B~HLA-DRB1, 798 HLA-B~HLA-C, and 446 HLA-DRB1~HLA-DQB1 haplotypes were detected. The haplotypes showed linkage imbalance, and 19 of them showed strong linkage imbalance (RLD>0.80). 【Conclusion】 The frequency and haplotype distribution of HLA-A, -B, -C, -DRB1 and -DQB1 alleles in Anhui Han population were obtained. The distribution of those alleles and haplotypes have their own characteristics.
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Objective@#To analyze family-based haplotype frequencies of HLA-A, -B, -C, -DRB1 and -DQB1 genes and their clinical significance.@*Methods@#The data of HLA genotyping in 3568 families undergoing related haploidentical transplantation between 2012 and 2017 at the First Affiliated Hospital of Soochow University were retrospectively evaluated. The HLA genotyping was performed by PCR amplification with sequence-based typing (PCR-SBT) and sequence-specific oligonucleotide probe (PCR-SSOP) methods. The family genetic analysis and haplotype frequencies were also investigated.@*Results@#All the families were divided into 3 groups, including group1 of 1 422 entire families; group2 of 1 310 patients and either of their parents or one of their children; group3 of 836 patients and their HLA≥5/10 matched sibling donors. In the haplotypes with frequencies greater than 0.1% in group1+ group2, the frequency of A*11∶01-B*40∶01-C*03∶04-DRB1*11∶01-DQB1*03∶01, A*02∶07-B*51∶01-C*14∶02-DRB1*09:01-DQB1*03∶03 were significantly different between group1 and group2 (P=0.029, 0.033) . The frequency of A*11∶01-B*46∶01-C*01∶02∶01G-DRB1*09∶01-DQB1*03∶03 was significantly different between group1 and group3 (P=0.035) . The frequency of A*02∶01-B*40∶01-C*07∶02-DRB1*09∶01-DQB1*03∶03 was significantly different between group1 and group2 (P=0.034) , or group1 and group3 (P=0.034) . The frequency of A*24∶02-B*13∶01-C*03∶04-DRB1*12∶02-DQB1*03:01 was significantly different between group2 and group3 (P=0.046) .@*Conclusion@#In this study, we summarize the prevalence of haplotype frequencies in terms of HLA-A, -B, -C, -DRB1 and-DQB1. Based on the database of family haplotype analysis, patients and donor candidates are sorted with matched HLA genotype while unmatched HLA haplotype. Even in patients without entire family information, HLA haplotype analysis assists in choosing the optimal related or unrelated donors.
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Objective: To analyze family-based haplotype frequencies of HLA-A, -B, -C, -DRB1 and -DQB1 genes and their clinical significance. Methods: The data of HLA genotyping in 3568 families undergoing related haploidentical transplantation between 2012 and 2017 at the First Affiliated Hospital of Soochow University were retrospectively evaluated. The HLA genotyping was performed by PCR amplification with sequence-based typing (PCR-SBT) and sequence-specific oligonucleotide probe (PCR-SSOP) methods. The family genetic analysis and haplotype frequencies were also investigated. Results: All the families were divided into 3 groups, including group1 of 1 422 entire families; group2 of 1 310 patients and either of their parents or one of their children; group3 of 836 patients and their HLA≥5/10 matched sibling donors. In the haplotypes with frequencies greater than 0.1% in group1+ group2, the frequency of A*11∶01-B*40∶01-C*03∶04-DRB1*11∶01-DQB1*03∶01, A*02∶07-B*51∶01-C*14∶02-DRB1*09:01-DQB1*03∶03 were significantly different between group1 and group2 (P=0.029, 0.033) . The frequency of A*11∶01-B*46∶01-C*01∶02∶01G-DRB1*09∶01-DQB1*03∶03 was significantly different between group1 and group3 (P=0.035) . The frequency of A*02∶01-B*40∶01-C*07∶02-DRB1*09∶01-DQB1*03∶03 was significantly different between group1 and group2 (P=0.034) , or group1 and group3 (P=0.034) . The frequency of A*24∶02-B*13∶01-C*03∶04-DRB1*12∶02-DQB1*03:01 was significantly different between group2 and group3 (P=0.046) . Conclusion: In this study, we summarize the prevalence of haplotype frequencies in terms of HLA-A, -B, -C, -DRB1 and-DQB1. Based on the database of family haplotype analysis, patients and donor candidates are sorted with matched HLA genotype while unmatched HLA haplotype. Even in patients without entire family information, HLA haplotype analysis assists in choosing the optimal related or unrelated donors.
Assuntos
Criança , Humanos , Alelos , Frequência do Gene , Antígenos HLA-A , Antígenos HLA-B , Antígenos HLA-C , Cadeias beta de HLA-DQ , Cadeias HLA-DRB1 , Haplótipos , Estudos RetrospectivosRESUMO
El sistema de antígenos leucocitarios Humano (Human Leukocyte Antigen, HLA) regula la respuesta inmune mediante su unión a moléculas como el receptor de células T, participando en la presentación de antígenos y el reconocimiento de lo propio en el organismo. La caracterización genética del sistema HLA en determinada población es de gran utilidad para la comprensión de mecanismos asociados a susceptibilidad o resistencia a enfermedades y en la selección de donantes/receptores en trasplantes de órganos. En este estudio se planteó determinar la frecuencia de los Haplotipos HLA de clase I presentes en individuos sanos, relacionados familiarmente y venezolanos de tercera generación y su correspondiente desequilibrio de ligamiento. Se incluyeron 765 individuos pertenecientes a 218 familias a los cuales se les realizó tipificación HLA A y HLA B por PCR-SSOP (polymerase chain reaction-sequence specific oligonucleotide probe) en baja resolución. Se identificaron 265 haplotipos de los cuales los más frecuentes fueron HLA A*24 B*35 (11,98 %), A*02 B*51 (9,7%) y A*02 B*35 (8,6 %).Para los cálculos de desequilibrio de ligamiento se consideraron las frecuencias mayores al 1% (28,7%) y no arrojaron valores estadísticamente significativos el 6,78% de estos haplotipos. Los resultados obtenidos corroboran la composición triétnica históricamente conocida de nuestra población, en la cual predominan genes caucásicos, amerindios y afrodescendientes; y su porcentaje marca la diferencia con otras poblaciones americanas estudiadas. Estos resultados representan una aproximación de la conformación genética establecida en Venezuela y aporta datos que podrán ser usados como referencia en programas de salud para la población.
The system of Human leukocyte antigens (HLA) is the most polymorphic in humans. Its function is performed by regulating the immune response by binding to molecules such as T-cell receptor, involved in antigen presentation and recognition of the same in the body. Genetic characterization of HLA system in a given population is useful for understanding the mechanisms associated with susceptibility or resistance to various diseases and selection of donors and recipients in organ transplants, among others. The objective of the present study is to determine the frequency of HLA Class I Haplotypes present in healthy individuals, family relationships and third-generation Venezuelan and their corresponding linkage disequilibrium. We included 765 individuals belonging to 218 families who underwent HLA typing HLA A and B by PCR-SSOP (polymerase chain reaction-sequence specific oligonucleotide probe) in low resolution. 265 haplotypes were identified of which the most frequent were HLA A * 24 B * 35 (11.98%), A * 02 B * 51 (9.7%) and A * 02 B * 35 (8.6%). Calculations of linkage disequilibrium were considered frequencies above 1% (28.7%) and did not show statistically significant the 6.78% of these haplotypes. The results support the historically known tri-ethnic composition of our population, in which genes predominantly Caucasian, Mongoloid and Negroid, and make a difference with other American populations studied. These data can be used as reference to applications of benefit to this population.
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As the incidence of end-stage renal disease (ESRD) is rapidly increasing, the demand for dialysis and transplantation has dramatically increased, which has led to concerns about the availability and equitable allocation of kidneys for transplantation. The distribution of HLA-A, B and DR alleles in 148 renal transplant recipients and 191 live related prospective donors from 2009 to 2010 were analyzed. Allele frequencies and haplotype frequencies were calculated in recipients and donors. The prospective donors were further analyzed on the basis of their relationship to the patients and according to the sex ratio. A significant female preponderance was noted in the prospective donor population, most of whom were either siblings or parents of the recipients. On the contrary, the recipient population predominantly comprised of males. The most frequent HLA-A, HLA-B, HLA-DRB1 alleles in renal transplant patients were HLA-A*11, A*02, A*01, A*24; HLA-B*35, B*40, B*44, B*15, B*52, and HLA-DRB1*15, DRB1*07, DRB1*13, DRB1*11 respectively. The most frequent HLA-A, HLA-B, HLA-DRB1 alleles in prospective donors were HLA-A*02, A*11, A*33, A*24; HLA-B*35, B*44, B*40, B*15 and HLA-DRB1*15, DRB1*07, DRB1*11, DRB1*13 respectively. A*11-B*35, A*02-DRB1*15, B*40- DRB1*15 were the most common HLA A-B , HLA A-DR, HLA B-DR haplotypes respectively in renal transplant patients, whereas, A*11-B*35, A*11-DRB1*15, B*44-DRB1*07 were the most common haplotypes in renal donors. In three locus haplotype, HLA-A*02-B*40-DRB1*15 was the most frequent haplotype in patients, whereas, in prospective renal donors HLA-A*33-B*44-DRB1*07 was the most frequent haplotype.
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Objective:To research the distribution features of HLA-A,B and DRB1 high resolution alleles and haplotypes in Heilongjiang population.Methods:PCR-SBT methods was applied for HLA-A,B,DRB1 high resolution genotyping of 13 670 unrelated and healthy donors in region of Heilongjiang,and haplotype frequencies were calculated by counting and maximum likelihood method. Results:A total of 286 HLA alleles were observed and the most frequent alleles(>0.1)were A*02∶01,A*24∶02,A*11∶01,DR*07∶01,DR*09∶01 and DR*15∶01.Among 1 087 kinds of HLA-A-B haplotype ,there were 22 kinds frequency higher than 0.01,and 267 kinds with statistically significant and positive linkage disequilibrium(ALD>0,HF≥1.09×10-4,χ2>3.84).Moreover,among 1 329 kinds of HLA-B-DRB1 haplotype,there were 19 haplotypes frequency higher than 0.01,and 357 kinds with statistically significant and positive linkage disequilibrium.1 348 kinds of A-B-DR Haplotype were informative with frequency≥1.66 ×10-4 in 4 428 haplotypes, and a total of 17 kinds of A-B-DR haplotype frequency higher than 0.005.Conclusion: Get the distribution features of HLA high resolution allele and haplotype in Heilongjiang population, and associated genetic parameters, Distribution of alleles and haplotypes close to northern Han population,but have their own distribution.
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Objective:To provide the basis of single nucleotide polymorphism(SNPs)for identification and analysis of ABCA4 gene related etiologic studies in Han Chinese in Beijing(CHB).Methods:SNPs of ABCA4 gene were analyzed for minor allele frequencies (MAFs),haplotype frequencies,linkage disequilibrium patterns,and tag SNPs by Haploview program using the HapMap data.Re-sults:129(37.6%)of 343 SNPs were monotonic.95 tagging SNPs were identified in 214 eligible SNPs with 3 haplotype blocks identi-fied.The frequencies of the top 2 haplotypes among each of the 3 haplotype blocks were between 91.1% and 94.0%.Conclusion:SNPs in ABCA4 gene were analyzed by Haploview program.The analysis provides clues for future studies involving this gene.
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0.005.The management center of Chinese Hematopoietic Stem Cell Donor Database checked the information through the network,and there had been 20 cases of successful transplantation using stem cells donated by Heilongjiang donors by March 2007.ConclusionDistribution of HLA-A,B,DRB1 alleles and haplotypes in Heilongjiang Chinese Han is close to that in Northern Chinese Han population,similar to that of the whole Chinese Han population.