Journal article
The absence of disease-specific polymorphisms within the HLA-B51 gene that is the susceptible locus for Behcet's disease
Tissue Antigens, Vol.58(2), pp.77-82
2001
Abstract
Behçet's disease is known to be associated with HLA-B51 in many different populations. Genetic evidence supports that the susceptible gene for Behçet's disease is the HLA-B51 allele at the HLA-B locus. This study was aimed to determine the HLA-B51 nucleotide sequence variation in three Behçet's disease patients and three healthy controls in order to elucidate if any disease specific mutations or polymorphisms may exist in the HLA-B51 gene of patients. Long-range polymerase chain reaction (PCR) was first carried out to give a PCR-amplified product of 9.5 kb which was then used as a template for nested PCR to give a final amplified product of 4.2 kb. This final product containing the 1.3-kb promoter/enhancer region and the entire HLA-B gene except for a 363-bp 3′ terminal end segment encoding the 3′ untranslated region was subcloned by the BP cloning technique and sequenced. The sequencing results showed that all the patients possessed the HLA-B*51011 allele, and there were no differences in the exonic nucleotide sequences between the three Behçet's disease patients and the three healthy controls. The HLA-B*51011 intronic and promoter/enhancer nucleotide sequences from the three patients had 22 single nucleotide polymorphisms (SNPs), a single insertion of 6 bp and a single deletion of 2 bp. On the other hand, the three healthy controls had 24 SNPs in their intronic and promoter/enhancer regions. However, none of these polymorphisms in the patients were specific for the disease. Therefore, these results clearly demonstrate that the HLA-B exonic sequence that encodes the HLA-B51 allele is the real pathogenic factor in Behçet's disease.
Details
- Title
- The absence of disease-specific polymorphisms within the HLA-B51 gene that is the susceptible locus for Behcet's disease
- Authors/Creators
- K. Sano (Author/Creator)K. Yabuki (Author/Creator)Y. Imagawa (Author/Creator)T. Shiina (Author/Creator)N. Mizuki (Author/Creator)S. Ohno (Author/Creator)J.K. Kulski (Author/Creator)H. Inoko (Author/Creator)
- Publication Details
- Tissue Antigens, Vol.58(2), pp.77-82
- Publisher
- Blackwell Publishing
- Identifiers
- 991005544598107891
- Murdoch Affiliation
- Centre for Comparative Genomics
- Language
- English
- Resource Type
- Journal article
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- Collaboration types
- Domestic collaboration
- International collaboration
- Citation topics
- 1 Clinical & Life Sciences
- 1.36 Ophthalmology
- 1.36.1207 Behcet's Disease
- Web Of Science research areas
- Cell Biology
- Immunology
- Pathology
- ESI research areas
- Molecular Biology & Genetics