外显子
生物
遗传学
突变
癌症研究
错义突变
原癌基因蛋白质c-ret
多发性内分泌肿瘤2型
基因
种系突变
点突变
选择性拼接
分子生物学
RNA剪接
外显子跳跃
突变体
基因突变
受体酪氨酸激酶
受体
胶质细胞源性神经生长因子
神经营养因子
作者
Alessandra Bolino,Schuffenecker I,Yin Luo,Marco Seri,Margherita Silengo,Tocco T,Chabrier G,Houdent C,Murat A,Martin Schlumberger
出处
期刊:Oncogene
[Springer Nature]
日期:1995-06-15
卷期号:10 (12): 2415-9
被引量:105
摘要
RET is a receptor tyrosine kinase gene which is responsible for three different inherited cancer syndromes namely multiple endocrine neoplasia type 2A (MEN 2A), type 2B (MEN 2B) and familial medullary thyroid carcinoma (FMTC) as well as for Hirschsprung disease (HSCR), a congenital disorder affecting the intestinal motility. Germ-line mutations in the RET exons 10 and 11 were demonstrated in the majority of the MEN 2A and FMTC patients. On the other hand, one codon of RET exon 16 is preferentially changed in MEN 2B patients. Recently, a germ-line mutation in the exon 13 was described in one FMTC family as well as in four sporadic MTCs. In the present study, we observed the same exon 13 mutation in two FMTC families. In addition, we identified a previously unreported substitution of RET exon 14 in two unrelated FMTC families. Both mutations segregate with the disease in these four FMTC families and involve the tyrosine kinase domain of RET. Haplotype analysis using polymorphic markers tightly linked to the RET gene indicates that in each pedigree the mutation arose as an independent event.
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