제2A형 다발성 내분비 선종에 대한 RET 유전자의 점돌연변이 분석

김성원; 이강대; 김주연; 문효성; 김영록; 박요한; 이길수

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자료유형: 학술저널

저자정보: 김성원 이강대 김주연 문효성 김영록 박요한 이길수

저널정보: 대한이비인후과학회 대한이비인후-두경부외과학회지 대한이비인후과학회지 두경부외과학 제50권 제6호

발행연도: 2007.1

수록면: 529 - 536 (8page)

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Background and Objectives：Multiple Endocrine Neoplasia type 2A (MEN 2A) is a syndrome that encompases medulary thyroid carcinoma, pheochromocytoma, and hyperparathyroidism. Since MEN 2A is inherited as autosomal dominant, early de-tection and treatment is crucial. A genetic analysis of RET proto-oncogene of the family members of an index patient diagnosed as MEN 2A is reported. Subjects and Method：A patient diagnosed as MEN 2A and his 13 family members acros two gener-ood leukocyte of family members and PCR amplification of exons 10, 11, 13, 14, 15, and 16 was performed, folowed by investigation of point mutation on the RET proto-oncogene using a DNA sequence analyzer. Cervical ultrasonography was caried out in the 3 nephews who were revealed to have RET proto-oncogene point mutation. Results：Point mutations of TGC (cys) to TG (Trp) at codon 634 of exon 11 at RET proto-oncogene was detected by using automatic DNA sequence analyzing method in the index patient. The same point mutation was point mutations of RET proto-oncogene. Conclusion：With the genetic analysis of RET proto-oncogene, limitations of the con-ventional calcitonin stimulation test may be overcome, and a more complete approach can be achieved through early diagnosis by carrying out this screening test for point mutations in family members of the patient with MEN 2A. (Korean J Otolaryngol 2007 ;50 :529-36)

#제2형 다발성 내분비 종양·수질성 암종·RET 종양 유전자·점 돌연변이. #MEN 2A· Medulary thyroid carcinoma· RET proto-oncogen· Point mutation.

참고문헌 (20)

참고문헌 신청

/ / Evaluation of the genotype-phe-notype relationship : 409 ~ 16

/ 1971 / Studies in familial thyroid cancer 84 : 144 ~ 51

/ 1996 / The relationship betwen specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2 276 (19) : 1575 ~ 1579

/ 1998 / Molecular biology of the MEN2 gene 243 (6) : 505 ~ 508

/ 1999 / RET proto-oncogene in the development of human cancer 17 (1) : 380 ~ 393

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