Hedayati Mehdi, Zarif Yeganeh Marjan, Sheikhol Eslami Sara, Rezghi Barez Shekoofe, Hoghooghi Rad Laleh, Azizi Fereidoun
Obesity Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran 1985717413, Iran.
J Thyroid Res. 2011;2011:264248. doi: 10.4061/2011/264248. Epub 2011 Jun 13.
Medullary thyroid carcinoma occurs in both sporadic (75%) and hereditary (25%) forms. The missense mutations of RET proto-oncogene in MTC development have been well demonstrated. To investigate the spectrum of predominant RET germline mutations in exons 10, 11, and 16 in hereditary MTC in Iranian population, 217 participants were included. Genomic DNAs were extracted from the leukocytes using the standard Salting Out/Proteinase K method. Mutation detection was performed through PCR-RFLP and DNA sequencing. In 217 participants, 43 missense mutations were identified in exons 10 (6%), 11 (13%), and 16 (0.9%). Moreover, a novel germline mutation was detected in exon 11 (S686N). Also four different polymorphisms were found in intron 16 in eight patients. The obtained data showed the frequency profile of RET mutations in Iranian individuals with MTC (19.8%). The most frequent mutation in our population was C634G whereas in most population it was C634R. Altogether, these results underline the importance of the genetic background of family members of any patient with MTC.
甲状腺髓样癌以散发性（75%）和遗传性（25%）两种形式出现。RET原癌基因的错义突变在甲状腺髓样癌的发生发展中已得到充分证实。为了研究伊朗人群遗传性甲状腺髓样癌中外显子10、11和16中主要RET种系突变的谱系，纳入了217名参与者。使用标准盐析/蛋白酶K方法从白细胞中提取基因组DNA。通过聚合酶链反应-限制性片段长度多态性分析（PCR-RFLP）和DNA测序进行突变检测。在217名参与者中，在外显子10（6%）、11（13%）和16（0.9%）中鉴定出43个错义突变。此外，在外显子11中检测到一种新的种系突变（S686N）。在8名患者的内含子16中还发现了四种不同的多态性。获得的数据显示了伊朗甲状腺髓样癌患者中RET突变的频率分布（19.8%）。我们人群中最常见的突变是C634G，而在大多数人群中是C634R。总之，这些结果强调了任何甲状腺髓样癌患者家庭成员遗传背景的重要性。
