遗传倾向于产生阴性克鲁茨菲尔特-雅各布病的遗传倾向
J Collinge1, M S Palmer, A J Dryden
1Department of Biochemistry and Molecular Genetics, St Mary's Hospital Medical School, London, UK.
Lancet (London, England)
|June 15, 1991
概括
克鲁茨菲尔特-雅各布病 (CJD) 可以通过人类生长激素传播. 遗传易感性,特别是valine 129同卵性基因型,增加了子感染和零星CJD的风险.
科学领域:
- 神经科学是一个神经科学.
- 传染性疾病 传染性疾病
- 遗传学 是一个遗传学.
背景情况:
- 克鲁茨菲尔特-雅各布病 (CJD) 是一种致命的海绵状脑病,已与涉及人类衍生的垂体激素的医疗程序有关.
- 传播是通过从尸体垂体腺体中获得的生长激素和淋巴激素发生的.
研究的目的:
- 调查遗传因素在暴露于受污染的垂体激素制剂后患有CJD的个体中的作用.
- 评估与激素治疗相关的CJD病例中特定的蛋白基因 (PRNP) 基因型的患病率.
主要方法:
- 在接受受污染的人体生长激素或淋巴激素的患者中分析了蛋白基因 (PRNP) 序列.
- 在PRNP基因的129号编码子中进行氨酸/氨酸多态的基因定型.
主要成果:
- 在1908年,在英国暴露于受污染的生长激素的人中,有6人患上了CJD.
- 在这些CJD病例中,以及一个与淋巴激素相关的病例中,有4例患有不常见的同卵性氨酸129基因型.
- 这种基因型表明对子感染的潜在遗传敏感性.
结论:
- 瓦林129同卵性基因型与暴露于受污染的垂体激素后患CJD的风险增加有关.
- 遗传易感性,特别是PRNP 129VV基因型,可能在零星CJD的发展中发挥重要作用.
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