RET是一个在转化中发生重排的原癌基因,且因此行为而得名.它编码细胞膜受体酪氨酸激酶,初步研究表明它介导的信号转导途径较为独特.RET基因突变与人类4种癌症的发生相关:甲状腺乳头状腺癌存在RET基因与其他基因多种重排;多发性内分泌腺瘤2型,家族遗传甲状腺髓样癌等存在7个位点点突变;先天巨结肠疾病与RET基因缺失相关.因此近年来备受关注.对Ret蛋白的结构功能,RET基因突变对Ret蛋白功能的影响及与人类相关疾病的关系作一综述.
RET proto-oncogene was rearranged during transformation,and so has the name.It encodes a cell membrane receptor tyrosine kinase.In recent years,the possible correlation between human diseases and Ret activation by mutation,such as rearrangement,point mutatoin,and deletion were studied.Its rearrangement with other gene fragment was frequently found in thyroid papillary carcinoma tissues.Point mutations were detected in multiple endocrine neoplasia 2 and familial medullary thyroid carcinoma.Hirshsprung syndrom may be resulted from its deletion. The structure and possible function of RET gene,its mutation effects to various human diseases were summarized.
毛建平,孙志贤. Ret:一种受体酪氨酸激酶及其基因突变与疾病[J].生物化学与生物物理进展,1998,25(6):513-517
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