| Background Thyroglobulin gene of autoimmune thyroid disease is one of the major susceptibility gene, TG gene polymorphisms are different in different races and regions. There are few reports about thyroglobulin gene exons 10,12,33 sequence analysis and autoimmune thyroid diseases. Therefore, to investigate gene polymorphism of thyroglob-ulin in Han population of North Henan region, and to study relationship between the polymorphism of TG gene and autoimmune thyroid disease of the north area of Henan Province, have a certain significance.Objective The aim of this study was to detect the TG gene exons 10,12,33 series of Han population of North region Henan, and to research and explore the presence of TG gene exons 10,12,33 sequences mutation of Han population of north Henan in china resulting from changes of thyroid disease, to investigate the correlation between TG gene exons 10, 12,33 sequence polymorphism of Han population of north Henan china and AITD, and to investigate different frequencies of the TG gene exons 10,12,33 polymorphism in different races and regions.Methods 70 cases of AITD patients (including 81 cases of hypothyroidism disease group, 78 cases of Gravers disease group,111 cases of Hashimoto’s disease group) were selected from outpatient and inpatient department of nuclear medicine of Anyang Area of Henan Province Hospital since June 2013 to June 2014, and 135 cases healthy control populations came from the the Hospital Medical Center, patients and healthy control populations were selected from Han population of North Henan of China. The inclusion criteria were mainly based on clinical signs and laboratory blood examinations of every group patients to diagnose, blood thyroid function was mainly examined by electrochemical luminescence detection method, thyroid 131I absorb rate determination was carried out to diagnose. Blood genomic DNA of every observation object was extracted, primers were designed for fluorescent PCR, TG gene exons 10,12,33 SNPs were examined by using high resolution melting assay (HRMA), the correlation analysis was performed between TG gene exons 10,12,33 SNPs and AITD.Results According to clinical signs and laboratory diagnosis, all patients were confirmed identification, patients of autoimmune thyroid disease (AITD) were separated out, hypothyroidism patients were 81 cases, hyperthyroidism (GD) patients were 78 cases and Hashimoto disease (HT) patients were 111 cases; There existed TG gene exon E10 SNP 24 T/G, E10 SNP 158 T/C, E12 SNP A/G, E33 SNP C/T polymorphisms in Han people in the north area of Henan Province; The four sites of the single locus genotype and allele frequencies were statistically significant differences between AITD group and healthy control group(TG E10SNP:allele T P=0.00,allele G P=0.00 and TG genotype GG P=0.00,TG P=0.00. TG E12SNP:allele A P=0.00, allele G P=0.00 and TG genotype GG P=0.00,AG P=0.00. all P<0.05); The haploid polymorphic loci combinatorial analysis was statistically significant difference between disease groups and the healthy control group (P<0.05), the combinatorial analysis of genes among hypothyroidism, hyperthyroidism and Hashimoto’s disease group wasn’t statistically significant(P>0.05); The distribution frequency of TG exon33 SNPs in Han population of China between North Henan and Xi’an area was statistically significant.Conclusion There exists TG gene polymorphism of AITD patients in North Henan province, single exon of TG allele gene or genotype is associated with AITD, TG gene haplotype polymorphism combinatorial analysis is related to hypothyroidism, hyperthyroidism disease (GD) and Hashimoto’s disease, SNPs distribution frequency of TG Exon33 is different in Chinese Han population and different regions. |