Thyroid Peroxidase Gene Mutation in Patients with Congenital Hypothyroidism in Isfahan, Iran
Joint Authors
Hashemipour, Mahin
Aminzadeh, Sepideh
Karimizare, Sakineh
Amini, Massoud
Khanahmad, Hossein
Hovsepian, Silva
Hadian, Rezvaneh
Karimipour, Morteza
Soheilipour, Fahimeh
Kokabee, Leila
Source
International Journal of Endocrinology
Issue
Vol. 2012, Issue 2012 (31 Dec. 2012), pp.1-6, 6 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2012-08-02
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Abstract EN
Background.
Thyroid peroxidase gene (TPO) mutations are one of the most common causes of thyroid dyshormonogenesis in patients with congenital hypothyroidism (CH).
In this study, the prevalence of TPO gene mutations in patients with thyroid dyshormonogenesis in Isfahan was investigated.
Methods.
In this cross-sectional study, genomic DNA of 41 patients with permanent CH due to thyroid dyshormonogenesis was extracted using the salting out method.
The 17 exonic regions of the TPO gene were amplified.
SSCP technique was performed for scanning of the exonic regions of the TPO gene, except exon 8.
DNA sequencing was performed for those with different migration patterns in SSCP by chain termination method.
Exon 8 was sequenced directly in all patients.
In 4 patients, all fragments were also sequenced.
Results.
One missense mutation c.2669G>A (NM_000547.5) at exon 15 (14th coding exon) in one patient in homozygous form and seven different single nucleotide polymorphisms (SNPs) in exons 1, 7, 8, 11, and 15 of TPO gene.
Conclusion.
The TPO gene mutations among CH patients with dyshormonogenesis in Isfahan were less frequent in comparison with other similar studies.
It may be due to the presence of other unknown gene mutations which could not be detected by SSCP and sequencing methods.
American Psychological Association (APA)
Hashemipour, Mahin& Soheilipour, Fahimeh& Karimizare, Sakineh& Khanahmad, Hossein& Karimipour, Morteza& Aminzadeh, Sepideh…[et al.]. 2012. Thyroid Peroxidase Gene Mutation in Patients with Congenital Hypothyroidism in Isfahan, Iran. International Journal of Endocrinology،Vol. 2012, no. 2012, pp.1-6.
https://search.emarefa.net/detail/BIM-492979
Modern Language Association (MLA)
Hashemipour, Mahin…[et al.]. Thyroid Peroxidase Gene Mutation in Patients with Congenital Hypothyroidism in Isfahan, Iran. International Journal of Endocrinology No. 2012 (2012), pp.1-6.
https://search.emarefa.net/detail/BIM-492979
American Medical Association (AMA)
Hashemipour, Mahin& Soheilipour, Fahimeh& Karimizare, Sakineh& Khanahmad, Hossein& Karimipour, Morteza& Aminzadeh, Sepideh…[et al.]. Thyroid Peroxidase Gene Mutation in Patients with Congenital Hypothyroidism in Isfahan, Iran. International Journal of Endocrinology. 2012. Vol. 2012, no. 2012, pp.1-6.
https://search.emarefa.net/detail/BIM-492979
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-492979