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Characterization of the class I HLA 9.2-kb PVU II restriction fragment length polymorphism. Linkage to HLA-A and lack of disease association.
Arthritis Rheum. 1989 Jul; 32(7):870-6.AR

Abstract

The strongest reported association between a class I HLA allele and disease is that of HLA-B27 with ankylosing spondylitis (AS). However, it has not been shown whether B27 is the gene that predisposes to the development of AS or if it is merely linked with the disease-susceptibility locus. Furthermore, if B27 itself is the disease-susceptibility gene, there may be epistatic loci that also contribute to the development of AS or modify its clinical manifestation. A class I HLA 9.2-kb Pvu II restriction fragment was recently identified, which, when present in a B27-positive individual, further increased the relative risk for developing AS (from 119 to 297). This study was therefore designed to confirm the association between AS and this restriction fragment length polymorphism (RFLP) and to map the location of this fragment in the genome. The data presented here suggest that the class I HLA 9.2-kb Pvu II RFLP represents a Pvu II polymorphism at the 5' end of the HLA-A locus that is tightly linked with both HLA-A3 and A9 alleles. However, there is no association between this RFLP and AS in a population of patients living in Baltimore.

Authors+Show Affiliations

Ahearn JM
Division of Molecular and Clinical Rheumatology, Johns Hopkins University School of Medicine, Baltimore, MD 21205.
Calomiris JJ
No affiliation info available
Wigley FM
No affiliation info available
Jabs DA
No affiliation info available
Bias WB
No affiliation info available
Hochberg MC
No affiliation info available

MeSH

Arthritis, ReactiveBlotting, SouthernDisease SusceptibilityGenetic LinkageGenetic MarkersHLA-A AntigensHLA-A3 AntigenHLA-B AntigensHLA-B27 AntigenHistocompatibility Antigens Class IHumansMolecular WeightPolymorphism, GeneticPolymorphism, Restriction Fragment LengthSpondylitis, AnkylosingUveitis, Anterior

Pub Type(s)

Journal Article
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

2568835

Citation

Ahearn, J M., et al. "Characterization of the Class I HLA 9.2-kb PVU II Restriction Fragment Length Polymorphism. Linkage to HLA-A and Lack of Disease Association." Arthritis and Rheumatism, vol. 32, no. 7, 1989, pp. 870-6.
Ahearn JM, Calomiris JJ, Wigley FM, et al. Characterization of the class I HLA 9.2-kb PVU II restriction fragment length polymorphism. Linkage to HLA-A and lack of disease association. Arthritis Rheum. 1989;32(7):870-6.
Ahearn, J. M., Calomiris, J. J., Wigley, F. M., Jabs, D. A., Bias, W. B., & Hochberg, M. C. (1989). Characterization of the class I HLA 9.2-kb PVU II restriction fragment length polymorphism. Linkage to HLA-A and lack of disease association. Arthritis and Rheumatism, 32(7), 870-6.
Ahearn JM, et al. Characterization of the Class I HLA 9.2-kb PVU II Restriction Fragment Length Polymorphism. Linkage to HLA-A and Lack of Disease Association. Arthritis Rheum. 1989;32(7):870-6. PubMed PMID: 2568835.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Characterization of the class I HLA 9.2-kb PVU II restriction fragment length polymorphism. Linkage to HLA-A and lack of disease association. AU - Ahearn,J M,Jr AU - Calomiris,J J, AU - Wigley,F M, AU - Jabs,D A, AU - Bias,W B, AU - Hochberg,M C, PY - 1989/7/1/pubmed PY - 2001/3/28/medline PY - 1989/7/1/entrez SP - 870 EP - 6 JF - Arthritis and rheumatism JO - Arthritis Rheum VL - 32 IS - 7 N2 - The strongest reported association between a class I HLA allele and disease is that of HLA-B27 with ankylosing spondylitis (AS). However, it has not been shown whether B27 is the gene that predisposes to the development of AS or if it is merely linked with the disease-susceptibility locus. Furthermore, if B27 itself is the disease-susceptibility gene, there may be epistatic loci that also contribute to the development of AS or modify its clinical manifestation. A class I HLA 9.2-kb Pvu II restriction fragment was recently identified, which, when present in a B27-positive individual, further increased the relative risk for developing AS (from 119 to 297). This study was therefore designed to confirm the association between AS and this restriction fragment length polymorphism (RFLP) and to map the location of this fragment in the genome. The data presented here suggest that the class I HLA 9.2-kb Pvu II RFLP represents a Pvu II polymorphism at the 5' end of the HLA-A locus that is tightly linked with both HLA-A3 and A9 alleles. However, there is no association between this RFLP and AS in a population of patients living in Baltimore. SN - 0004-3591 UR - https://www.unboundmedicine.com/medline/citation/2568835/Characterization_of_the_class_I_HLA_9_2_kb_PVU_II_restriction_fragment_length_polymorphism__Linkage_to_HLA_A_and_lack_of_disease_association_ DB - PRIME DP - Unbound Medicine ER -