Table of Contents
What does the HLA-DQA1 gene do?
The HLA-DQA1 gene is part of a family of genes called the human leukocyte antigen (HLA) complex. The HLA complex helps the immune system distinguish the body’s own proteins from proteins made by foreign invaders such as viruses and bacteria.
Is Type 1 diabetes recessive or dominant?
Genetics of Type I diabetes mellitus: a single, recessive predisposition gene mapping between HLA-B and GLO.
How is celiac disease diagnosed?
Doctors use information from your medical and family history, a physical exam, a dental exam link, and medical test results to look for signs that you might have celiac disease and should be tested. Doctors typically diagnose celiac disease with blood tests and biopsies of the small intestine.
What does it mean if you test positive for celiac?
A positive antibody test suggests that a person might have celiac disease, but it is not a conclusive test; a biopsy will be needed to confirm the diagnosis. Your doctor may order one or more of the antibody tests indicated above (a “panel”) to aid in diagnosis.
What are HLA-DQA1 and DQB1 loci?
The HLA loci in celiac disease are in the class II region at the DQ locus, and HLA-DQA1 and DQB1 loci code for α- and β-chain proteins that associate as heterodimers on the surface of antigen-presenting cells. These protein heterodimers are known as HLA-DQ molecules.
How many patients with celiac disease are tested for the HLA-DQA1 gene?
A total of 133 patients with celiac disease were tested for the HLA-DQA1 and HLA-DQB1 genes. Their corresponding allele and haplotype frequency distributions were estimated from the phenotypes found. The results were correlated with data from the clinical records.
What is the most common genotype for DQA1?
Table 1 shows the phenotype frequencies observed and the genotypes for DQA1 and DQB1 loci. The most common allele for the HLA-DQA1 locus was the *0501 (60.1%). The most common genotype for this locus was *0501/*0201 (48.9%). For the HLA-DQB1 locus, the most common phenotype was *0201 (47.7%).
When should you consider HLA genetic testing?
Researchers state there are many clinical scenarios in which HLA genetic testing should be considered. For instance, HLA testing can be used to exclude celiac disease in patients experiencing symptoms after beginning a gluten-free diet or to identify patients who may be at risk for celiac disease due to having a family history.