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2009 Vienna - European Society of Human Genetics

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Cytogenetics<br />

P03.028<br />

HLA B27 allele status in turkish patients with<br />

spondyloartropathy<br />

P. Ata Eren 1,2 , A. Aktaş 1 , N. Denizli 1 , F. Akdogan 1 , H. Sokmen 1 , S. Erdem 3 , M.<br />

Solak 4,5 ;<br />

1 Haydarpasa Numune Research and Training Hospital, Istanbul, Turkey, 2 <strong>Genetics</strong><br />

Diseases Research Center, Turkey, 3 Kirikkale Univ. Dept. <strong>of</strong> Medical Biology,<br />

Ankara, Turkey, 4 Afyon Kocatepe Univ., Dept. <strong>of</strong> Medical Biology, Afyon,<br />

Turkey, 5 Council <strong>of</strong> Higher Education <strong>of</strong> Republic <strong>of</strong> Turkey, Ankara, Turkey.<br />

Some <strong>of</strong> the spondyloarthropathies are inflammatory joint diseases <strong>of</strong><br />

the vertebral column associated with the MHC class I molecule HLA-<br />

B27. It has shown that HLA-B27 heavy chains can form stable homodimers<br />

lacking ß2m, and it is possible that such an aberrant form <strong>of</strong> the<br />

B27 molecule could be involved in disease pathogenesis<br />

Two hundred and seventeen patients admitted to our center because<br />

<strong>of</strong> artropathy and or uveitis symptoms between July 2008 and January<br />

<strong>2009</strong> were analysed for HLA B27 allele status. Patients were informed<br />

and gave consent. Genomic DNA was isolated from peripheral<br />

blood leukocytes by ethanol precipitation. HLA B27 allele status was<br />

searched by sequence specific primer method by multiplex PCR covering<br />

HLA B27 and B73 alleles. With the detection <strong>of</strong> the 145 and 95<br />

base pair products along with internal control bands it was considered<br />

as the presence <strong>of</strong> these alleles.<br />

In this study 67% (145/217) <strong>of</strong> our patients were carrying B27 allele.<br />

There were patients with uveitis (32/145), reactive artritis (25/147), inflammatory<br />

bowel disease (18/147), spondyloartropathy (72/147). Patients<br />

had neutrophilic type leukocytosis (43%), raised ESR (66%) and<br />

anemia (45%). We determined female predominance in allele positive<br />

group in contrast to the literature (p

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