THE FREQUENCY OF G691S/S904S HAPLOTYPE OF RET PROTO-ONCOGENE IN MEDULLARY THYROID CARCINOMA PATIENTS IN IRANIAN POPULATION

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SHEIKHOLESLAMI SARA; ZARIF YEGANEH MARJAN; HOGHOOGHI RAD LALEH; DANESHPOUR MARYAM SADAT; HEDAYATI MEHDI

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Journal: Tehran University Medical Journal Year:2014 | Volume:72 | Issue:8 Page(s): 526-532

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Title

THE FREQUENCY OF G691S/S904S HAPLOTYPE OF RET PROTO-ONCOGENE IN MEDULLARY THYROID CARCINOMA PATIENTS IN IRANIAN POPULATION

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Keywords

HAPLOTYPESQ2

MEDULLARYQ2

PROTO-ONCOGENEQ2

THYROID CANCERQ2

Abstract

Background: MEDULLARY 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. Several studies have been published that indicate the molecular analysis of RET gene may offer early identification of those patients at high risk to develop MTC and may provide the opportunity for early intervention. The aim of this study was to investigate frequency of G691S/S904S haplotype in MTC patients and their relatives.Methods: From 2004 to 2014, 358 participants were studied, including 213 patients (119 female, 94 male) and 145 their relatives (79 female, 66 male) in cellular and molecular research center of Shahid Beheshti Research Institute for Endocrine Sciences, Tehran, Iran. 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. The RET mutations and SNPs, sequences were analyzed.Results: According to DNA sequencing results, 189 individuals (119 patients, 70 relatives) had both G691S (rs1799939) missense mutation in exon 11 and S904S (rs1800863) synonymous mutation in exon 15 of RET PROTO-ONCOGENE. The allele frequency of G691S/S904S haplotype was 35.02% in patients and 29.92% in their relatives.Conclusion: The 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. This haplotype are not considered as oncogenic mutations at this time, its functional role should be investigated. Further analysis is needed to demonstrate the association between this haplotype and MTC development.

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APA: Copy

SHEIKHOLESLAMI, SARA, ZARIF YEGANEH, MARJAN, HOGHOOGHI RAD, LALEH, DANESHPOUR, MARYAM SADAT, & HEDAYATI, MEHDI. (2014). THE FREQUENCY OF G691S/S904S HAPLOTYPE OF RET PROTO-ONCOGENE IN MEDULLARY THYROID CARCINOMA PATIENTS IN IRANIAN POPULATION. TEHRAN UNIVERSITY MEDICAL JOURNAL (TUMJ), 72(8), 526-532. SID. https://sid.ir/paper/39473/en

Vancouver: Copy

SHEIKHOLESLAMI SARA, ZARIF YEGANEH MARJAN, HOGHOOGHI RAD LALEH, DANESHPOUR MARYAM SADAT, HEDAYATI MEHDI. THE FREQUENCY OF G691S/S904S HAPLOTYPE OF RET PROTO-ONCOGENE IN MEDULLARY THYROID CARCINOMA PATIENTS IN IRANIAN POPULATION. TEHRAN UNIVERSITY MEDICAL JOURNAL (TUMJ)[Internet]. 2014;72(8):526-532. Available from: https://sid.ir/paper/39473/en

IEEE: Copy

SARA SHEIKHOLESLAMI, MARJAN ZARIF YEGANEH, LALEH HOGHOOGHI RAD, MARYAM SADAT DANESHPOUR, and MEHDI HEDAYATI, “THE FREQUENCY OF G691S/S904S HAPLOTYPE OF RET PROTO-ONCOGENE IN MEDULLARY THYROID CARCINOMA PATIENTS IN IRANIAN POPULATION,” TEHRAN UNIVERSITY MEDICAL JOURNAL (TUMJ), vol. 72, no. 8, pp. 526–532, 2014, [Online]. Available: https://sid.ir/paper/39473/en

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