| Objective Thyroid associated ophthalmopathy is an organ-specific autoimmunedisease,English abbreviation is TAO,its incidence is closely with thyroid disease,there are about25%-50% Graves patients complicated with TAO,and thuroid function in normal population andpations with hypothyoroidism can also occur.The topic of this paper is based on the angle ofthyrotropin receptor (TSHR)is the TAO autoantigen of preferred reasons,so we research from theangle of thyrotropin receptor gene.Thyrotropin receptor mutations can lead to the change of theprotein structure and the immunigenicity,then produce autoantibodies with cause of abnormalthyroid function and related diseases. Through the study of TSHR gene locus D727E GAC -GAG polymorphism in Chinese Han population in Shanxi area to know TAO possible geneticfactors and pathogenesis, prevention and treatment for TAO and provide experimental basis.Methods The experiment was divided into three groups,for thyroid associatedophthalnopathy group,Graves disease group and normal control group,a total of 166 researchobjects.Among them 51 cases(male 20,female 31) in group TAO, GD group with 55patients(male 24,female 31) and CON group in 60 cases(male 24,female 36).All patients andhealthy controls were in Han people in Shanxi and signed the consent.Elbow vein bloodextracted from 2ml anticoagulation preservation,extraction of leukocytes within genomic DNA.Test TSHR D727E gene locus genotype and allele frequency in Shanxi Han people byPCR-RFLP method.Results The frequencies of G allele and genotype GG+GC in three groups were different(P < 0.05 ), group TAO frequency ( 28.4%, 47.1%) was significantly higher than that of groupGD ( 15.5%, 25.5%) and normal control group ( 5.8%, 10%),group GD frequency ( 15.5%,25.5%) was significantly higher than that in normal control group ( 5.8%, 10%).Conclusion Shanxi areas existing TSHR D727E sites genetic polymorphism in the hanpeople, G alleles of TSHR D727E site related with the occurrence of TAO and GD. |
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