THE MUTATION OF DUAL OXIDASE 2 (DUOX2) GENE AMONG PATIENTS WITH PERMANENT AND TRANSIENT CONGENITAL HYPOTHYROIDISM

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ROSTAMPOUR NOOSHIN; TAJADDINI MOHAMADHASAN; HASHEMIPOUR MAHIN; SALEHI MANSOUR; FEIZI AVAT; HAGHJOOY JAVANMARD SHAGHAYEGH; KELISHADI ROYA; SANEIAN HOSEIN; HOVSEPIAN SILVA; AMINI MASSOUD

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Journal: JOURNAL OF ISFAHAN MEDICAL SCHOOL (I.U.M.S) Year:2011 | Volume:29 | Issue:139 Page(s): 588-595

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Title

THE MUTATION OF DUAL OXIDASE 2 (DUOX2) GENE AMONG PATIENTS WITH PERMANENT AND TRANSIENT CONGENITAL HYPOTHYROIDISM

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Keywords

CONGENITAL HYPOTHYROIDISMQ2

DUAL OXIDASE 2 (DUOX2) GENEQ2

Abstract

Background: Considering the high prevalence of CONGENITAL HYPOTHYROIDISM (CH) in Isfahan and its different etiologies comparing with other countries, the high rate of parental consanguinity and the role of DUOX2 gene in transient CH and permanent CH due to dyshormonogenesis, the aim of this research was to investigate the mutations of DUOX2 gene in patients with transient or permanent CH due to dyshormonogenesis.Methods: In this descriptive prospective study, patients diagnosed with transient CH and permanent CH due to dyshormonogenesis during CH screening program, were selected. Venous blood sample was obtained to determine the 3 mutations Q36H, R376W, D506N of DUOX2 gene using Real-time PCR HRM method by specific primers and complementary molecular methods such as Sequencing.Findings: In this study 25 and 33 CH patients with transient CH and permanent CH due to dyshormonogenesis were studied respectively. 30 children studied as control group. We did not find any mutation of the mentioned three mutations of DUOX2 gene.Conclusion: Considering the findings of current study, it seems that further studies with other methods and also with considering other gene mutations such as pendrin, NIS and thyroglobulin is needed for more accurate conclusion.

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APA: Copy

ROSTAMPOUR, NOOSHIN, TAJADDINI, MOHAMADHASAN, HASHEMIPOUR, MAHIN, SALEHI, MANSOUR, FEIZI, AVAT, HAGHJOOY JAVANMARD, SHAGHAYEGH, KELISHADI, ROYA, SANEIAN, HOSEIN, HOVSEPIAN, SILVA, & AMINI, MASSOUD. (2011). THE MUTATION OF DUAL OXIDASE 2 (DUOX2) GENE AMONG PATIENTS WITH PERMANENT AND TRANSIENT CONGENITAL HYPOTHYROIDISM. JOURNAL OF ISFAHAN MEDICAL SCHOOL (I.U.M.S), 29(139), 588-595. SID. https://sid.ir/paper/51223/en

Vancouver: Copy

ROSTAMPOUR NOOSHIN, TAJADDINI MOHAMADHASAN, HASHEMIPOUR MAHIN, SALEHI MANSOUR, FEIZI AVAT, HAGHJOOY JAVANMARD SHAGHAYEGH, KELISHADI ROYA, SANEIAN HOSEIN, HOVSEPIAN SILVA, AMINI MASSOUD. THE MUTATION OF DUAL OXIDASE 2 (DUOX2) GENE AMONG PATIENTS WITH PERMANENT AND TRANSIENT CONGENITAL HYPOTHYROIDISM. JOURNAL OF ISFAHAN MEDICAL SCHOOL (I.U.M.S)[Internet]. 2011;29(139):588-595. Available from: https://sid.ir/paper/51223/en

IEEE: Copy

NOOSHIN ROSTAMPOUR, MOHAMADHASAN TAJADDINI, MAHIN HASHEMIPOUR, MANSOUR SALEHI, AVAT FEIZI, SHAGHAYEGH HAGHJOOY JAVANMARD, ROYA KELISHADI, HOSEIN SANEIAN, SILVA HOVSEPIAN, and MASSOUD AMINI, “THE MUTATION OF DUAL OXIDASE 2 (DUOX2) GENE AMONG PATIENTS WITH PERMANENT AND TRANSIENT CONGENITAL HYPOTHYROIDISM,” JOURNAL OF ISFAHAN MEDICAL SCHOOL (I.U.M.S), vol. 29, no. 139, pp. 588–595, 2011, [Online]. Available: https://sid.ir/paper/51223/en

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