제 1 형 다발성 내분비선종증을 가진 한 가계의 유전자 변이 분석

김주연; 최소희; 이환호; 최영식; Shinya Uchino; 문효성; 이강대; 박요한

추천

검색

자료유형: 학술저널

저자정보: 김주연 최소희 이환호 최영식 Shinya Uchino 문효성 이강대 박요한

저널정보: 대한이비인후과학회 대한이비인후-두경부외과학회지 대한이비인후과학회지 두경부외과학 제48권 제3호

발행연도: 2005.1

수록면: 347 - 351 (5page)

이용수

📌

연구주제

📖

연구배경

🔬

연구방법

🏆

연구결과

초록· 키워드

오류제보하기

Background and Objectives：MEN I is an autosomal dominant disorder characterized by multiple tumors occurring in the parathyroid, pituitary, and pancreas. There is a variety of mutations in MEN I that are scatered throughout the coding region, thus MEN I family has its unique type of mutations. The aim of this study is to investigate the significance of genetic screning via analyzing the MEN I gene in the MEN I family. Subjects and Method：Three family members related to MEN I were involved for studying the MEN I gene mutation by using single strand conformational polymorphism and DNA sequence an-alysis of the coding region and the exon-intron boundaries of the MEN I gene. Results：A specific germline mutation of 1023 a to g transition at the splice aceptor site of exon 7 was identified in all three members of the family in the direct sequence analysis of MEN I gene. Conclusion：Genetic analysis for mutations in the MEN I family allows identification of individuals predisposed only in genetic counselling of clinical management of the MEN I families but also in reducing health care expenses and psycho-logical burden of the diseases.

#제 1 형 다발성 내분비선종증 #MEN Ⅰ)·유전변이 분석·중합효소 연쇄반응. #Multiple endocrine neoplasia type I #MEN I)· Mutational analysis· PCR.

참고문헌 (16)

참고문헌 신청

/ / Nordenskjold M.Multiple endocrine neoplasia type 1 gene maps to chromosome 11and is lost in insulinoma. Nature 1988 : 85 ~ 7

/ / Oberg K. Hyperparathyroidismpresenting as the first lesion in multiple endocrine neoplasiatype 1. Am J Med 1987 : 731 ~ 7

/ / Wermer P. Genetic aspects of adenomatosis of endocrine glands. AmJ Med 1954 : 363 ~ 71

/ / et al. The multipleendocrine neoplasia type I in sisters. Korean J Internal M SupplI 1993 : 236 ~

/ 1997 / et al. Germline mutations of the MEN1 gene infamilial muliple endocrine neoplasea type 1 and related states. HumMol Genet 1997 : 1169 ~ 75

함께 읽어보면 좋을 논문

논문 유사도에 따라 DBpia 가 추천하는 논문입니다. 함께 보면 좋을 연관 논문을 확인해보세요!