Gene Mutation Study Of Dual Oxidase 1(DUOX1) In Patients Of Congenital Hypothyroidism With Goiter

Objective To investigate the mutations and specifics of DUOX1 gene in congenital hypothyroidism(CH) with goiter patients of Shandong Province, China. To give theoretical basis for prenatal diagnosis,gene diagnosis of CH.Methods We enrolled 43 patients of CH with goiter from neonatal screening center in Shandong Province, China with average age 5.3±3.2. The inclusion criteria is(1) The newborn with TSH≥20m IU/L was taken blood to detect TSH、FT3、FT4 for making a definite diagnosis of CH, then scanned by B ultrasound to make a diagnosis of goiter.(2) Mothers of the patients have not had any thyroid disease history or taken antithyroid drugs.(3) All the patients came from 43 unrelated families in Shandong area.(4)Rule out other congenital diseases. Genomic DNA was extracted from peripheral blood, and DUOX1 exons were amplified using polymerase chain reaction(PCR). The PCR products were sequenced after purified in order to find gene mutations or single nucleotide polymorphism(SNP).Results We found eight SNP and a synonymous mutation of DUOX1 gene:rs201018426:( c.698-37G>T), rs72724253:( c.926-15C>T), rs2271435:(c.1389+9G>T),rs1706765:(c.1389+258T>G),rs779532602:(c.1565+20C>T),synonymous mutation( rs199569484 : c.2622T>C, p.D874=), rs938129:(c.2548+54A>G),rs1706813:(c.4533+105C>G),rs142322972:(c.4533+90G>A)。Conclusion The mutation rate of DUOX1 gene in CH with goiter patients of Shandong Province was low. DUOX1 gene mutation may not be the main cause of CH with goiter of Shandong Province.