Detection of heterozygous c.1708C>T and c.1978C>G thyroid peroxidase (TPO) mutations in Iraqi patients with toxic and nontoxic goiter

作者: A. H. M. AL-Faisal , I. J. AL-Ramahi , I. A. Abudl-Hassan , A. T. Hamdan , S. Barusrux

DOI: 10.1007/S00580-012-1572-9

关键词:

摘要: Sixty-three Arabic patients (16 males and 47 females) with thyroid toxic nontoxic goiter who attended the endocrinologist in Nuclear Medicine Hospital Al Yarmok Department Baghdad, Iraq were examined for peroxidase (TPO) gene mutations. A total of ten heterozygous mutations have been identified human TPO associated goiter. These involved transition or transversion cysteine either by thymine guanine at position 1708 exon 10 (c.1708C>T) 1978 11 (c.1978C>G). From a detected mutations, two c.1978C>G eight (two c.1708C>T six mutations) In conclusion, this study that not yet reported Iraq, most them are among females (90 %) adults age between 30 50 years old (80 %).

参考文章(55)
Lorraine A. Everett, Benjamin Glaser, John C. Beck, Jacquelyn R. Idol, Andreas Buchs, Ma'ayan Heyman, Faiad Adawi, Elizur Hazani, Elias Nassir, Andreas D. Baxevanis, Val C. Sheffield, Eric D. Green, Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS) Nature Genetics. ,vol. 17, pp. 411- 422 ,(1997) , 10.1038/NG1297-411
Cecilia LS Santos, Hennie Bikker, Katia GM Rego, Antonio C Nascimento, Marcos Tambascia, Jan JM De Vijlder, Geraldo Medeiros‐Neto, None, A novel mutation in the TPO gene in goitrous hypothyroid patients with iodide organification defect. Clinical Endocrinology. ,vol. 51, pp. 165- 172 ,(1999) , 10.1046/J.1365-2265.1999.00746.X
Yardena Tenenbaum-Rakover, Sunee Mamanasiri, Carrie Ris-Stalpers, Alina German, Joseph Sack, Stavit Allon-Shalev, Joachim Pohlenz, Samuel Refetoff, Clinical and genetic characteristics of congenital hypothyroidism due to mutations in the thyroid peroxidase (TPO) gene in Israelis Clinical Endocrinology. ,vol. 66, pp. 695- 702 ,(2007) , 10.1111/J.1365-2265.2007.02804.X
Shu Ye, Sahar Dhillon, Xiayi Ke, Andrew R Collins, Ian NM Day, An efficient procedure for genotyping single nucleotide polymorphisms. Nucleic Acids Research. ,vol. 29, pp. 0- 0 ,(2001) , 10.1093/NAR/29.17.E88
Antti E. E. Brander, Veli P. Viikinkoski, Juha I. Nickels, Leena M. Kivisaari, Importance of Thyroid Abnormalities Detected at US Screening: A 5-year Follow-up Radiology. ,vol. 215, pp. 801- 806 ,(2000) , 10.1148/RADIOLOGY.215.3.R00JN07801
Alexei A. Koshkin, Sanjay K. Singh, Poul Nielsen, Vivek K. Rajwanshi, Ravindra Kumar, Michael Meldgaard, Carl Erik Olsen, Jesper Wengel, LNA (Locked Nucleic Acids): Synthesis of the adenine, cytosine, guanine, 5-methylcytosine, thymine and uracil bicyclonucleoside monomers, oligomerisation, and unprecedented nucleic acid recognition Tetrahedron. ,vol. 54, pp. 3607- 3630 ,(1998) , 10.1016/S0040-4020(98)00094-5
Mary P. Gillam, Peter Kopp, Genetic defects in thyroid hormone synthesis. Current Opinion in Pediatrics. ,vol. 13, pp. 364- 372 ,(2001) , 10.1097/00008480-200108000-00014
Johnny Deladoëy, Nicole Pfarr, Jean-Marc Vuissoz, Jasmine Parma, Gilbert Vassart, Stefan Biesterfeld, Joachim Pohlenz, Guy Van Vliet, Pseudodominant Inheritance of Goitrous Congenital Hypothyroidism Caused by TPO Mutations: Molecular and in Silico Studies The Journal of Clinical Endocrinology and Metabolism. ,vol. 93, pp. 627- 633 ,(2008) , 10.1210/JC.2007-2276
Ileana GS Rubio, Geraldo Medeiros-Neto, Mutations of the thyroglobulin gene and its relevance to thyroid disorders. Current Opinion in Endocrinology, Diabetes and Obesity. ,vol. 16, pp. 373- 378 ,(2009) , 10.1097/MED.0B013E32832FF218