多结节性甲状腺肿的分子遗传学研究进展

Progress in the molecular genetic research of multinodular goiter *

多结节性甲状腺肿是一种分布广泛的世界性疾病。目前对其研究多停留在遗传流行病学领域 ,少有分子生物学方面的报道。研究者普遍认为 ,其致病机理与激素、生长因子和甲状腺滤泡的功能异质性等因素有关 ,目前对其分子遗传学研究聚焦于与激素合成及碘代谢相关的基因位点。全基因组扫描策略的使用 ,已在一个较大的家系内将易感基因定位于染色体 14q。但还需要其他实验来证实并缩小定位范围 。

Multinodular goiter is a worldwide distributed disease,but yet its pathology and genetic etiology are not clear. At present, most researches have been restrained to traditional epidemiological survey and the disease has been rarely studied at the level of molecular genetics. The pathogenesis of multinodular goiter, as is generally accepted by most researchers, can be attributed to many factors such as hormones, growth factors and the inherent functional heterogeneity of thyroid follicles. Since hormone and iodine metabolization are widely recognized as a major mechanism in determining the formation of multinodular goiter, some reports in literature are mainly focused on such genes that are responsible for hormone synthesis and iodine metabolization. Mapping experimental data were available to support location of multinodular goiter gene(s) onto chromosome 14q by whole genome scanning in a large pedigree analysis. Additional data, particularly those extracted from large scaled marker assisted mapping experiments, are important so as to confirm the gene location, to improve resolution of the location, and finally to dissect the genes underlying the disease at molecular level.