Haplotype Frequency of G691S/S904S in the RET Proto-Onco-gene in Patients with Medullary Thyroid Carcinoma.

Content Provider	Europe PMC
Author	SHEIKHOLESLAMI, Sara ZARIF YEGANEH, Marjan HOGHOOGHI RAD, Laleh GOLAB GHADAKSAZ, Hoda HEDAYATI, Mehdi
Copyright Year	2014
Abstract	AbstractBackgroundMedullary thyroid carcinoma (MTC) occurs in both sporadic (75%) and hereditary (25%) forms. The missense mutations of the REarranged during Transfection (RET) proto-oncogene in MTC development have been well demonstrated. The aim of this study was to investigate frequency of G691S/S904S haplotype in MTC patients and their relatives.MethodsIn this research 293 participants were studied, including 181 patients (102 female, 79 male) and 112 their relatives (58 female, 54 male). Genomic DNA was extracted from peripheral blood leucocytes using the standard Salting Out/Proteinase K method. Nucleotide change detection was performed using PCR and direct DNA sequencing methods.ResultsAccording to DNA sequencing results, 159 individuals (104 patients, 55 relatives) had both G691S (rs1799939) missense mutation in exon11 and S904S (rs1800863) synonymous mutation in exon 15 of RET proto-oncogene. The allele frequency of G691S/S904S haplotype was 21.15% in patients and 10.75% in their relatives.ConclusionThe obtained data showed the frequency of G691S/S904S RET gene haplotype among Iranian MTC patients and their relatives. The G691S and S904S nucleotide changes were in complete linkage disequilibrium, so the results were grouped together and referred to as G691S/S904S haplotype. Further analysis is need to demonstrate the association between this haplotype and MTC development.
ISSN	22516085
Volume Number	43
PubMed Central reference number	PMC4450692
Issue Number	2
PubMed reference number	26060748
Journal	Iranian Journal of Public Health [Iran. J. Public Health]
e-ISSN	22516093
Language	English
Publisher	Tehran University of Medical Sciences
Publisher Date	2014-02-01
Access Restriction	Open
Rights License	This work is licensed under a Creative Commons Attribution-NonCommercial 3.0 Unported License which allows users to read, copy, distribute and make derivative works for non-commercial purposes from the material, as long as the author of the original work is cited properly. Copyright © Iranian Public Health Association & Tehran University of Medical Sciences
Subject Keyword	Thyroid cancer Medullary RET proto-oncogene G691S/S904S haplotype
Content Type	Text
Resource Type	Article
Subject	Public Health, Environmental and Occupational Health