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Indian J Hum Genet. 2012 Sep;18(3):340-3. doi: 10.4103/0971-6866.107989.

Analysis of loss of heterozygsity effect on thyroid tumor with oxyphilia cell locus in familial non medullary thyroid carcinoma in Iranian families.

Indian journal of human genetics

Hasti Atashi Shirazi, Mehdi Hedayati, Maryam Sadat Daneshpour, Abdollah Shafiee, Fereidoun Azizi

Affiliations

  1. Cellular Molecular and Endocrine Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

PMID: 23716943 PMCID: PMC3656524 DOI: 10.4103/0971-6866.107989

Abstract

MATERIAL AND METHODS: 22 nuclear families (78 persons including 12 patients) with papillary and follicular tumors were selected in a period of six months from Milad hospital. Five microsatellite markers (D19S413, D19S391, D19S916, D19S568, D19S865) on 19p13.2 were selected for genetic analysis. Genomic DNAs was extracted; PCR and polyacrylamide gel electrophoresis method were used for variation detection.

RESULTS: The results show that 5.4% of the follicular carcinomas and 17.9% of the papillary carcinomas presented LOH at recognition sites. LOH of Papillary carcinoma detected about 13.9% and follicular carcinoma 7.2% in this study. The frequency of informative cases was not similar for each marker: D19S413 (41.1%)[1], D19S391 (12.5%), D19S916 (10.7%), D19S568 (1.8%) and D19S865 (3.6%). Loss of hetrozygosity in D19S413 predicts the relation between variation in this region and the disease.

DISCUSSION: Our findings showed an average of 13.9% LOH in FNMTC cases. Among the five major microsatellites, D19S413 was the most informative for LOH analysis of FNMTC.

Keywords: Familial non medullary thyroid carcinoma; Iran; loss of heterozygosis; thyroid tumor with oxyphilia cell

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