HLA-B27 is a class I surface antigen strongly associated with seronegative spondyloarthropathies, such as ankylosing spondylitis. Ankylosing spondylitis is a type of arthritis characterised by long-term inflammation of the joints of the spine. 90% of patients diagnosed with Ankylosing spondylitis (AS) test positive for HLA-B27, thus genotyping is suitable for the differential diagnosis of AS. However, only 1-2% of those who test positive for HLA-B27 develop AS. Therefore, the test is not indicated as a screening test.HLA-B27 has a frequency of approximately 8% in the general Caucasian population.The qualitative assay used for the detection of HLA-B27 discriminates the presence or absence of HLA-B*27 alleles in a human genomic DNA extract from blood. This assay detects the following HLA-B*27 subtypes:
B*27:01, B*27:02:01:01-05, B*27:02:02-05, B*27:03, B*27:04:01-06, B*27:05:02:01-3, B*27:05:02:04Q, B*27:05:02:05-21, B*27:05:03-17, B*27:05:18:01-02, B*27:05:19-47, B*27:06:01:01-02, B*27:08-10, B*27:12:01:01-03, B*27:13:01-02, B*27:15-18, B*27:23, B*27:25-29, B*27:31, B*27:35, B*27:37-42, B*27:44-49, B*27:50:01-02, B*27:51-58, B*27:59N, B*27:60-62, B*27:64N-66N, B*27:67-69, B*27:71-72, B*27:74-79, B*27:82-89, B*27:91-93, B*27:94N, B*27:96:01-02, B*27:97-98, B*27:100-101, B*27:103-123, B*27:126, B*27:128-129, B*27:131-137, B*27:139-149, B*27:151-152, B*27:154, B*27:156-163, B*27:165-175, B*27:176N, B*27:177-179, B*27:181-184, B*27:185Q, B*27:186, B*27:189-204, B*27:206-211, B*27:212N, B*27:213-214, B*27:215N, B*27:220-222, B*27:223N, B*27:225N, B*27:226.
