Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:2.7.7.7 (DNA polymerase)
 17,007 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report here the DNA polymerase chain reaction sequence-specific oligonucleotide (PCR-SSO) typing of the HLA-DR B1, B3, B4, B5 and DQB1 loci for a sample of 103 Vietnamese Kinh from Hanoi, and compare their allele and haplotype frequencies to other East Asiatic and Oceanian populations studied during the 11th and 12th International HLA Workshops. The Kinh exhibit some very high-frequency alleles both at DRB1 (1202, which has been confirmed by DNA sequencing, and 0901) and DQB1 (0301, 03032, 0501) loci, which make them one of the most homogeneous population tested so far for HLA class II in East Asia. Three haplotypes account for almost 50% of the total haplotype frequencies in the Vietnamese. The most frequent haplotype is HLA-DRB1*1202-DRB3*0301-DQB1*0301 (28%), which is also predominant in Southern Chinese, Micronesians and Javanese. On the other hand, DRB1*1201 (frequent in the Pacific) is virtually absent in the Vietnamese. The second most frequent haplotype is DRB1*0901-DRB4*01011-DQB1*03032 (14%), which is also commonly observed in Chinese populations from different origins, but with a different accessory chain (DRB4*0301) in most ethnic groups. Genetic distances computed for a set of Asiatic and Oceanian populations tested for DRB1 and DQB1 and their significance indicate that the Vietnamese are close to the Thai, and to the Chinese from different locations. These results, which are in agreement with archaeological and linguistic evidence, contribute to a better understanding of the origin of the Vietnamese population, which has until now not been clear.
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PMID:HLA-DR and -DQB1 DNA polymorphisms in a Vietnamese Kinh population from Hanoi. 944 2

Steroid-sensitive nephrotic syndrome (SSNS) of children has been associated with several HLA-DR and DQ alleles. To investigate this association in Egyptian children, 27 patients with SSNS were typed for HLA-DRB1 and DQB1 alleles using DNA polymerase chain-reverse hybridization technique. The results were compared with 121 healthy subjects for HLA-DRB1 and 59 subjects for DQB1 alleles. We found that: (1) patients have higher frequencies of both DQB1 *0601 (81.5% vs. 10.2% in controls, Pc=0.0001) and DRB1 *01 (44.4% vs. 3.3% in controls, Pc=0.00003). Their relative risks are significantly high [38.9, confidence interval (CI)=10.7-140.7, and 23.4, CI=6.7-81.9, respectively]; (2) the frequency of DRB1 *11 alleles was low in SSNS patients (3.75% vs. 32.2% in controls), but was not significant when P was corrected (P=0.005, Pc=NS). These findings suggest that DQB1 *0601 and DRBI *01 or closely associated unknown genes confer susceptibility to SSNS. However, further studies with larger numbers of patients are needed.
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PMID:HLA-DQB1 and DRB1 alleles in Egyptian children with steroid-sensitive nephrotic syndrome. 963 45

We report here a novel DQB1 allele (DQB1*0616) identified during sequence-based HLA typing. Polymerase chain reaction with proofreading Pwo DNA polymerase and pfu DNA polymerase and subsequent sequencing yielded identical results as that with Taq DNA polymerase. Molecular cloning and sequencing confirmed that the new DQB1 allele is identical to DQB1*0602 at exon 2 except for a single nucleotide substitution (TAC-->AAC), changing codon 60 from Tyr to Asn. This is the first report of polymorphism of DQB1 alleles at codon 60.
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PMID:Identification of a novel DQB1 allele DBQ1*0616. 1032 44

Reliable, high-resolution genotyping of human leukocyte antigen (HLA) polymorphisms is often compromised by DNA samples of suboptimal quality or limited quantity. We tested the feasibility of molecular typing for variants at HLA and neighboring loci using whole genome amplification (WGA) strategy facilitated by the Phi29 DNA polymerase. With little (5-100 ng) starting genomic DNA of varying quality and source materials, WGA was deemed successful in 167 of 169 DNA from 47 cell lines, 100 European Americans, and 22 native Africans. The Phi29-processed DNA provided adequate templates for polymerase chain reaction (PCR)-based analyses of several HLA (A, B, C, DRB1, and DQB1) and related loci (HFE, MICA, and 10 microsatellites) in the 6p24.3-6p21.3 region, with PCR amplicons ranging from 92 to 2200 bp. Five different genotyping techniques resolved and confirmed 364 genotypes when both original and Phi29-processed DNA worked in PCRs. General population genetic analyses provided additional evidence that WGA may represent a reliable and simple approach to securing ample genomic DNA for typing HLA, MICA, and related variants.
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PMID:Molecular typing of human leukocyte antigen and related polymorphisms following whole genome amplification. 1530 10