Study on nicotinamide nucleotide transhydrogenase gene mutation in Shandong Han patients with congenital hypothyroidism

YANG Cheng-yu; LIU Yu-na; LIU Wen-miao; LIU Shi-guo; YI Ming-ji; YAN Sheng-li

doi:10.11852/zgetbjzz2018-26-01-04

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Chinese Journal of Child Health Care ›› 2018, Vol. 26 ›› Issue (1) : 11-14. DOI: 10.11852/zgetbjzz2018-26-01-04

Study on nicotinamide nucleotide transhydrogenase gene mutation in Shandong Han patients with congenital hypothyroidism

YANG Cheng-yu¹, LIU Yu-na², LIU Wen-miao³, LIU Shi-guo³, YI Ming-ji⁴, YAN Sheng-li¹

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Abstract

Objective To screen nicotinamide nucleotide transhydrogenase (NNT) mutation of Chinese Han children with congenital hypothyroidism (CH) from Shandong province,and to analyze the association between NNT and CH in order to provide theoretical basis for the diagnosis of CH. Methods Totally 50 Chinese Han children with CH from Shandong province were enrolled to complete NNT encoding regions screening.DNA was extracted from the blood,the NNT encoding regions amplified by PCR were sent for Sanger sequencing and theResults of Sanger sequencing were compared with the original sequence(NM_012343.3)in NCBI to identify mutations.Biological information analysis of the identified mutations had been down. Results NNTc.1475C＞T(p.A492V)was found in two patients and NNTc.2704C＞A(p.P902T)was carried in one patient.The former mutation might be not a pathogenic mutation while the later one might be pathogenic mutation according to the Polyphen value. Conclusion Maybe NNT mutation is not the main virulence gene of CH in Chinese Han patients from Shandong province and still needs further study with more patients.

Key words

congenital hypothyroidism / nicotinamide nucleotide transhydrogenase / mutation

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YANG Cheng-yu, LIU Yu-na, LIU Wen-miao, LIU Shi-guo, YI Ming-ji, YAN Sheng-li. Study on nicotinamide nucleotide transhydrogenase gene mutation in Shandong Han patients with congenital hypothyroidism[J]. Chinese Journal of Child Health Care. 2018, 26(1): 11-14 https://doi.org/10.11852/zgetbjzz2018-26-01-04

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