Thyroid Peroxidase Gene Mutation in Patients with Congenital Hypothyroidism in Isfahan, Iran
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...
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| Format: | Article |
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Wiley
2012-01-01
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| Series: | International Journal of Endocrinology |
| Online Access: | http://dx.doi.org/10.1155/2012/717283 |
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| author | Mahin Hashemipour Fahimeh Soheilipour Sakineh Karimizare Hossein Khanahmad Morteza Karimipour Sepideh Aminzadeh Leila Kokabee Massoud Amini Silva Hovsepian Rezvaneh Hadian |
| author_facet | Mahin Hashemipour Fahimeh Soheilipour Sakineh Karimizare Hossein Khanahmad Morteza Karimipour Sepideh Aminzadeh Leila Kokabee Massoud Amini Silva Hovsepian Rezvaneh Hadian |
| author_sort | Mahin Hashemipour |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-d528decbb8514d4c864c49b97ad88d2f |
| institution | OA Journals |
| issn | 1687-8337 1687-8345 |
| language | English |
| publishDate | 2012-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | International Journal of Endocrinology |
| spelling | doaj-art-d528decbb8514d4c864c49b97ad88d2f2025-08-20T02:19:58ZengWileyInternational Journal of Endocrinology1687-83371687-83452012-01-01201210.1155/2012/717283717283Thyroid Peroxidase Gene Mutation in Patients with Congenital Hypothyroidism in Isfahan, IranMahin Hashemipour0Fahimeh Soheilipour1Sakineh Karimizare2Hossein Khanahmad3Morteza Karimipour4Sepideh Aminzadeh5Leila Kokabee6Massoud Amini7Silva Hovsepian8Rezvaneh Hadian9Isfahan Endocrine and Metabolism Research Center, Child Growth and Development Research Center, Isfahan University of Medical Sciences, Isfahan, IranIsfahan Endocrine and Metabolism Research Center, Child Growth and Development Research Center, Isfahan University of Medical Sciences, Isfahan, IranMolecular Medicine Department, Pasteur Institute of Iran, Tehran, IranMolecular Medicine Department, Pasteur Institute of Iran, Tehran, IranMolecular Medicine Department, Pasteur Institute of Iran, Tehran, IranMolecular Medicine Department, Pasteur Institute of Iran, Tehran, IranMolecular Medicine Department, Pasteur Institute of Iran, Tehran, IranIsfahan Endocrine and Metabolism Research Center, Isfahan University of Medical Sciences, Isfahan, IranIsfahan Endocrine and Metabolism Research Center, Child Growth and Development Research Center, Isfahan University of Medical Sciences, Isfahan, IranIsfahan Endocrine and Metabolism Research Center, Isfahan University of Medical Sciences, Isfahan, IranBackground. 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.http://dx.doi.org/10.1155/2012/717283 |
| spellingShingle | Mahin Hashemipour Fahimeh Soheilipour Sakineh Karimizare Hossein Khanahmad Morteza Karimipour Sepideh Aminzadeh Leila Kokabee Massoud Amini Silva Hovsepian Rezvaneh Hadian Thyroid Peroxidase Gene Mutation in Patients with Congenital Hypothyroidism in Isfahan, Iran International Journal of Endocrinology |
| title | Thyroid Peroxidase Gene Mutation in Patients with Congenital Hypothyroidism in Isfahan, Iran |
| title_full | Thyroid Peroxidase Gene Mutation in Patients with Congenital Hypothyroidism in Isfahan, Iran |
| title_fullStr | Thyroid Peroxidase Gene Mutation in Patients with Congenital Hypothyroidism in Isfahan, Iran |
| title_full_unstemmed | Thyroid Peroxidase Gene Mutation in Patients with Congenital Hypothyroidism in Isfahan, Iran |
| title_short | Thyroid Peroxidase Gene Mutation in Patients with Congenital Hypothyroidism in Isfahan, Iran |
| title_sort | thyroid peroxidase gene mutation in patients with congenital hypothyroidism in isfahan iran |
| url | http://dx.doi.org/10.1155/2012/717283 |
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