感应受体的A986S多态性和循环的度
D E Cole1, V D Peltekova, L A Rubin
1Department of Laboratory Medicine and Pathobiology, University of Toronto, Ontario, Canada. davidec.cole@utoronto.ca
Lancet (London, England)
|February 19, 1999
概括
常见的CASR A986S基因变体显著影响细胞外水平. 这种遗传多态性是调节的关键因素,可能使个体易患骨和矿物质疾病.
科学领域:
- 遗传学 是一个遗传学.
- 生物化学 生物化学
- 内分泌学 在内分泌学.
背景情况:
- 细胞外度由甲状腺激素通过感应受体 (CASR) 调节.
- CASR基因突变会影响的平衡,导致家族性高血症或低血症.
- 常见的CASR A986S误解多态是水平的潜在遗传决定因素.
研究的目的:
- 为了研究CASR A986S多态和细胞外度之间的关联.
- 确定血清水平的遗传和生化预测因素.
主要方法:
- 在163名健康妇女中对CASR A986S变异进行基因型定型.
- 对血清,白蛋白,酸盐,副甲状腺激素和pH的测定.
- 测量了84名妇女的全血中电离的含量.
主要成果:
- A986S基因型在调整了白蛋白和其他生物化学因素后,独立地与血清水平相关.
- 专,酸盐,副甲状腺激素,pH值和A986S基因型共同解释了血清变化的74%.
- 禁食全血电离与986S变种呈现出积极的关联.
结论:
- 在CASR A986S多态显著影响细胞外调节.
- 这种常见的遗传变异是患有不平衡和骨/矿物代谢相关疾病的候选者.
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