학술논문

B*27 in molecular diagnostics: Impact of new alleles and polymorphism outside exons 2 and 3.
Document Type
Article
Source
Tissue Antigens. Jul2002, Vol. 60 Issue 1, p25. 11p.
Subject
*HLA histocompatibility antigens
*MOLECULAR diagnosis
*EXONS (Genetics)
*GENETIC polymorphisms
Language
ISSN
0001-2815
Abstract
HLA-B[sup *]27 is known to be associated with ankylosing spondylitis and several methods have been applied to determine its presence or absence. In this report two molecular methods were used for detection of B[sup *]27. The polymerase chain reaction sequence-specific primer (PCR-SSP) method was performed to detect the presence or absence of B[sup *]27, whereas the sequence-based typing method (SBT) was used to identify the B[sup *]27 subtype. The PCR-SSP method used to detect B[sup *]27 was updated to enable the detection of all B[sup *]27 alleles. The typing results obtained by this method were compared with the serological typings of 262 individuals. Fifty of them were found to be B[sup *]27 positive by PCR-SSP and 46 also showed positive serological reactions with B27-specific sera. The four discrepancies were the result of the presence of B[sup *]2712 in three individuals and B[sup *]2715 in one individual; both alleles showed no serological reactions with B27specific antisera. With SBT the sequences of exons 1 through 4 were determined to unequivocally assign the B[sup *]27 alleles. Eleven different subtypes were detected in 78 individuals, including three new B[sup *]27 alleles: B[sup *]27054, B[sup *]2715 and B[sup *]2717. The allele B[sup *]27054 showed an allelic drop out when exon 3 was amplified. Three differences with B[sup *]27052 were demonstrated; one in exon 1, one in intron 1 and one in intron 2, the latter being responsible for the allelic drop out. The B[sup *]2715 allele was serologically not detectable with several B27-specific sera, but showed Bw4-positive reactions. The sequence of B[sup *]2715 showed two mismatches with B[sup *]2704. The sequence of B[sup *]2717 showed one mismatch with B[sup *]27052 at position 248 (A→T), which was considered to be a conserved position in all B alleles. [ABSTRACT FROM AUTHOR]