Detection of genetic variants in HLA-DQA1 gene with thyrotoxicosis patients in Thi-Qar City

الملخص EN

This study was conducted to describe the single nucleotide polymorphism (SNPs) within the exon 2 of HLA-DQA1, a gene that encodes a MHC class II antigenthat localized in the surface of many immune cells and they play a central role in the immune system by presenting peptides derived from extracellular proteins, as well asto analyze the consequences of non-synonymous SNPs in this gene using several in silicobioinformatics tools in the patients with Hyper thyrotoxicosis Blood samples were collected, DNA was extracted, and one pair of specific PCR primers was designed to amplify exon 2 of thisgene.

PCR experiments were optimized and performed,and PCR products were purified and sequenced from both termini.

Sequencing results were analyzed, and each observed nsSNP was further analyzed by several computational tools.

Out of six observed SNPs, five of them were non-synonymous.

It was found that the deleterious effect of these non-synonymous SNPs wasvaried, and the most damaging mutation was V68F followed by K92N.

While the T49S and I99M have a mild parallel effect.However, no clear association was revealed between the observed SNPs of HLA-DQA1 gene and the progression of the Hyper thyrotoxicosis disease.

Therefore, the associative pattern of this genetic variation with Hyper thyrotoxicosis disease should be interpreted with caution.