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ID 111528
タイトル別表記
The molecular genetics of multiple endocrine neoplasia type 2A and 2B
著者
キーワード
10q 11.2
Loss of heterozygosity
Ret proto-oncogene
Mutation
資料タイプ
学術雑誌論文
抄録
Multiple endocrine neoplasia (MEN) type 2A (MEN 2A) and type 2B (MEN 2B) are dominantly inherited with a predisposition to endocrine tumors. The responsible genes for MEN 2A and 2B have recently been localized to chromosome 10q 11.2 by genetic and physical mapping. The DNA segment encompasses the RET proto-oncogene. This is a receptor tyrosine kinase gene, which is expressed in medullary thyroid carcinoma and pheochromocytoma. Point mutations in the cysteine-rich domain of the RET were demonstrated in patients with MEN 2A. The cosegregation of these mutations and disease in MEN 2A families indicates that they possess a predisposition endocrine organs to develop into tumors. Biological assesment of the mutant forms in cell culture and trans­genic mouse lines should provide further insight as to the role of the RET in the tumor development.
掲載誌名
日本臨牀
ISSN
00471852
cat書誌ID
AN00198641
出版者
日本臨牀社
52
4
開始ページ
1081
終了ページ
1086
発行日
1994-04
EDB ID
フルテキストファイル
言語
jpn
著者版フラグ
出版社版
部局
歯学系