High‐resolution HLA typing for the DQB1 gene by sequence‐based typing

Voorter, C. E. M.; Kik, M.C.; Berg‐Loonen, Ella M. van den

doi:10.1111/j.1399-0039.1998.tb02950.x

Cited by 56 publications

(53 citation statements)

References 36 publications

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“…First, a low resolution typing was performed by means of group-specific amplification of exon 2 using a 59 or 39 specific primer in combination with a generic primer. Depending on the allele groups that were identified, high-resolution typing was performed by a subsequent PCR-SSP using additional primer mixes, or by sequence-based typing [11,12]. For high-resolution typing of HLA-DPB1, sequencebased typing was used in all instances [13].…”

Section: Tumour Necrosis Factor-a Gene Polymorphism Analysismentioning

confidence: 99%

“…The sequence-based typing method for the HLA class II alleles was carried out as described previously [11][12][13]. For SBT of all class II genes, a PCR product was generated by amplification of exon 2 and, if needed, exon 3 using amplification and sequencing primers located at the 59 and 39 end of exon 2 or in introns 1 and 2.…”

Section: Tumour Necrosis Factor-a Gene Polymorphism Analysismentioning

confidence: 99%

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Major histocompatibility locus genetic markers of beryllium sensitization and disease

et al. 2001

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Hypersensitivity to beryllium (Be) is found in 1–16% of exposed workers undergoing immunological screening for beryllium disease using the beryllium lymphocyte proliferation test (BeLPT). However, only ∼50% of BeLPT-positive workers present with lung granulomas (i.e.berylliosis). As berylliosis is associated with the human leukocyte antigen (HLA)-DP supratypic marker DPGlu69, the authors asked whether this marker is differentially associated with disease presentation.A population of 639 workers from a beryllium factory undergoing BeLPT screening was evaluated in a nested case-control study for the prevalence of HLA-DPGlu69, the HLA-DPB1, HLA-DQ and HLA-DR alleles and of the biallelic tumour necrosis factor (TNF)-;α polymorphism TNF-;α-;308 in 23 individuals presenting as “sensitized” (i.e.BeLPT-positive without lung granulomas) and in 22 presenting as “diseased” (i.e.BeLPT-positive with granulomas in the lung biopsy).The HLA-DPGlu69 marker was associated with “disease” (odds ratio (OR) 3.7, p=0.016, 95% confidence interval (CI) 1.4–10.0), whilst the high TNF-;α production-related TNF-;α-;308*2 marker was associated with both a positive BeLPT (OR 7.8, corrected p<0.0001, 95% CI 3.2–19.1) with no difference between “sensitization” and “disease”. Furthermore, the HLA-DRArg74 marker was associated with “sensitization” without disease (OR 3.96, p=0.005, 95% CI 1.5–10.1).The data indicate that tumour necrosis factor-;α, human leukocyte antigen-DR and human leukocyte antigen-DP markers play different roles in beryllium sensitization and granuloma formation in beryllium-exposed workers.

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Section: Tumour Necrosis Factor-a Gene Polymorphism Analysismentioning

confidence: 99%

Section: Tumour Necrosis Factor-a Gene Polymorphism Analysismentioning

confidence: 99%

Major histocompatibility locus genetic markers of beryllium sensitization and disease

et al. 2001

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“…Primer pairs located within exon 2 were used for PCR ampli®cation [13]. The positive PCR products were used as templates for the sequencing reaction.…”

Section: Study Subjectsmentioning

confidence: 99%

“…The positive PCR products were used as templates for the sequencing reaction. Internal labelled sequencing primers were used, located in conserved regions [13]. Automatic sequencing was performed using an ABI PRISM 310 genetic analyser (Perkin Elmer, Applied Biosystems Division, Foster City, CA).…”

Section: Study Subjectsmentioning

confidence: 99%

HLA class II homozygosity confers susceptibility to common variable immunodeficiency (CVID)

Concha¹,

Fernández‐Arquero²,

Martínez³

et al. 1999

Clinical and Experimental Immunology

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SUMMARYMost cases of CVID occur sporadically, but familial cases do also occur and 15% of the patients with the disease have ®rst degree relatives with IgA de®ciency (IgAD). Our purpose was to study CVID association with HLA class II alleles and to ascertain whether this disease shares a common genetic background with IgAD in our population. Patients with CVID (n 42), were typed using gene ampli®cation and sequence-speci®c oligonucleotide probing for HLA-DRB1, DRB3, DQA1 and DQB1 loci and their typing compared with that of 96 IgAD and 334 healthy controls. We observed a positive association between non-Asp residues at position 57 of the HLA-DQb chain and CVID, although much weaker than in IgAD. Further, we found an association between CVID and homozygosity for genes encoding HLA class II molecules, especially HLA-DQ, not seen in IgAD. The data support the hypothesis that a restricted diversity of HLA class II molecules may contribute to susceptibility to CVID.

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“…The nucleotide difference between DQB1 0201 and DQB1 0202 is located in exon 3 at codon 135 (12). The allele combination DQB1 0301/0302 and DQB1 0303/ 0304 yield an identical heterozygous sequence and there-fore result in ambiguous typing (13).…”

Section: Introductionmentioning

confidence: 99%

Distribution of HLA-DQA1^01,^03,^05 and DQB1^02 Subtypes and the Associated Haplotypes in the Korean Population

et al. 2003

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IntroductionHLA-DQ proteins are encoded by the HLA-DQ genes and expressed as heterodimers of and chains at the cell surface (1-4). The HLA-DQ region consists of the matched genes (DQA1 and DQB1) and the pseudogenes (DQA2 and DQB2) (5,6). They are in linkage disequilibrium with the HLA-DR genes. Similarly to other HLA class II genes, the DQ genes show their polymorphic variation mainly in the second exon, which encodes the first extracellular domain of the molecule (5,7). However, distinct DQA1 alleles differ in exons other than the second exon. In particular, HLA-DQA1 0101, DQA1 0104, and DQA1 0105 alleles are distinguished in exons 1 and 4; identification of HLA-DQA1 0301, DQA1 0302, and DQA1 0303 alleles require typing of exons 1 and 3; and HLA-DQA1 0505 differs from DQA1 0501 alleles in exons 1 and 3 (8). Polymorphism at the HLA-DQB1 locus used to be determined by serology and recognized the specificities DQ1, DQ2, DQ3 and DQ4 (9). Subdivision of DQ1 and DQ3 resulted in the assignment of 5 additional serological DQB1 types, DQ5, DQ6, DQ7, DQ8 and DQ9 (10,11). The use of DNA typing techniques has increased the number of alleles. The allelic sequence diversity is also predominantly present in exon 2 and, except for DQB1 0201 and DQB1 0202, all alleles can be discriminated by PCR-SSOP in this exon. The nucleotide difference between DQB1 0201 and DQB1 0202 is located in exon 3 at codon 135 (12). The allele combination DQB1 0301/0302 and DQB1 0303/ 0304 yield an identical heterozygous sequence and there- ABSTRACTBackground: As all HLA class II genes, the DQ genes show their polymorphic variation mainly in the second exon, which encodes the first extracellular domain of the molecule. PCR-SSOP (Polymerase chain reaction-Sequence specific oligonucleotide probe) techniques were frequently used for HLA-DQA1 and DQB1 typing but certain alleles, DQA1 0101/0104/0105, 0302/0303, 0501/0505 and DQB1 0201/ 0202, which differ from each other in segment other than exon 2, could not be unequivocally assigned. Methods: To overcome this problem, we applied additional PCR-SSP (PCR-Sequence specific primer) method to analyze DQA1 exons 1, 3 and 4 and DQB1 exon 3. And we investigated the distributions and haplotypes of HLA-DRB1, DQA1 and DQB1 alleles in 406 unrelated Korean healthy individuals. Results: Using this method the indistinguishable alleles of DQA1 and DQB1 in PCR-SSOP were typed definitively. We also found several important associations between DQA1 and DQB1 alleles in the Korean population; DQA1 0101-DQB1 0501, DQA1 0104-DQB1 0502 or -0503, DQA1 0105-DQB1 0501, DQA1 0302-DQB1 0303, DQA1 0303-DQB1 0401 or -0402, DQA1 0501-DQB1 0201, DQA1 0505-DQB1 0301, and DQA1 0201-DQB1 0202. The haplotypes of DRB1-DQA1-DQB1 associated with DQA1 01, 03, 05, and DQB1 02 subtypes were investigated. Several haplotypes associated with these alleles were observed in the Korean population. Conclusion: Our results can be helpful to find potential unrelated donors for bone marrow registries and study the HLA-associated disease and anthropology ...

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High‐resolution HLA typing for the DQB1 gene by sequence‐based typing

Cited by 56 publications

References 36 publications

Major histocompatibility locus genetic markers of beryllium sensitization and disease

Major histocompatibility locus genetic markers of beryllium sensitization and disease

HLA class II homozygosity confers susceptibility to common variable immunodeficiency (CVID)

Distribution of HLA-DQA1^01,^03,^05 and DQB1^02 Subtypes and the Associated Haplotypes in the Korean Population

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High‐resolution HLA typing for the DQB1 gene by sequence‐based typing

Cited by 56 publications

References 36 publications

Major histocompatibility locus genetic markers of beryllium sensitization and disease

Major histocompatibility locus genetic markers of beryllium sensitization and disease

HLA class II homozygosity confers susceptibility to common variable immunodeficiency (CVID)

Distribution of HLA-DQA1*01,*03,*05 and DQB1*02 Subtypes and the Associated Haplotypes in the Korean Population

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Distribution of HLA-DQA1^01,^03,^05 and DQB1^02 Subtypes and the Associated Haplotypes in the Korean Population