Screening of double oxide enzyme mutations in patients with congenital hypothyroidism.

HAN Wen-xiu; ZANG Hong-wei; ZANG Yu-cui; YI Ming-ji; YAN Sheng-li; LIU Shi-guo; GE Yin-lin.

doi:10.11852/zgetbjzz2016-24-08-04

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Chinese Journal of Child Health Care ›› 2016, Vol. 24 ›› Issue (8) : 795-799. DOI: 10.11852/zgetbjzz2016-24-08-04

Screening of double oxide enzyme mutations in patients with congenital hypothyroidism.

HAN Wen-xiu¹,ZANG Hong-wei¹,ZANG Yu-cui²,YI Ming-ji³,YAN Sheng-li⁴,LIU Shi-guo²,GE Yin-lin¹.

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Abstract

Objective To study the types and characteristics of double oxide enzyme (DUOX1) mutation in patients with congenital hypothyroidism (CH) and thyroid goiter from Shandong province,and provide theoretical basis for the diagnosis and treatment of CH. Methods Totally 100 healthy individuals and 43 cases of patients who were diagnosed as congenital hypothyroidism (CH) were extracted their genomic DNA from peripheral blood and thyroid goiter in neonatal screening in Shandong Province.All the exons of DUOX1 were amplified by polymerase chain reaction (PCR) and direct sequencing (Sanger sequencing),DUOX1 gene was analysed whether there was mutation combining with the results of DNA sequencing and bioinformatics analysis,and χ² test was used. Results No DUOX1 gene mutation was found in 43 cases of CH with thyroid goiter patients and 100 healthy individuals enrolled according to the sequencing results and bioinformatics analysis,however,two SNPs were found (rs16939752,c.3076T>C; rs1706804,c.3228A>G) in exon region,the former was a missense mutation (Cys→Arg),the latter was a synonymous mutation (Thr→Thr); one SNP was found (rs2020216,IVS8+129C>T) in intron region.There was no significant difference between the SNP rate in CH patients and controls(P>0.05). Conclusion The DUOX1 gene mutation rate is very low which may not be the main factor leading to the congenital hypothyroidism with thyroid goiter in Shandong province,China.

Key words

congenital hypothyroidism / thyroid goiter / double oxide enzyme / mutation

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HAN Wen-xiu,ZANG Hong-wei,ZANG Yu-cui,YI Ming-ji,YAN Sheng-li,LIU Shi-guo,GE Yin-lin.. Screening of double oxide enzyme mutations in patients with congenital hypothyroidism.[J]. Chinese Journal of Child Health Care. 2016, 24(8): 795-799 https://doi.org/10.11852/zgetbjzz2016-24-08-04

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