18世纪和现在的垂体瘤AIP突变
还记得巨人症吗？那个发生在青春期前的垂体前叶机能亢进症。骨骺愈合前，如果垂体分泌生长激素过于旺盛，比如垂体瘤，就会导致幼儿时便开始生长过速，10岁左右已可有成人高大,可继续生长到30岁左右，身高可高达240厘米，明显比一般人高大，肌肉发达，性器官发育较早，性欲强烈，当生长至高峰后，身体状况逐渐开始衰退。如果骨骺愈合后激素还继续旺盛分泌，就会发展为肢端肥大症，有时还并发泌乳素瘤。这其中有什么分子遗传学基础呢？科学家从一个生活在1761-1783的巨人症病人的牙齿里发现了一种AIP（hydrocarbon-interacting protein）基因的突变，和现在北爱尔兰四个巨人症、肢端肥大症和泌乳素瘤家族的基因进行了对比，发现都存在c.910C→T,p.R304X_AIP_突变，经过基因序列微卫星测定和统计学分析，推论他们都是57-66代前同一个祖先的后代。不过，在这四个家族中51个基因突变的携带者中只有14个发病，所以关于垂体瘤疾病的外显率还是有进一步的研究空间的哦，你想试试吗？
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简报请见 Brief Report: AIP Mutation in Pituitary Adenomas in the 18th Century and Today
详情请见 http://www.nejm.org/doi/full/10.1056/NEJMoa1008020#t=article