Functional Analysis of the Single Nucleotide Polymorphism (787T>C) in the Tissue‐Nonspecific Alkaline Phosphatase Gene Associated With BMD
Functional Analysis of the Single Nucleotide Polymorphism (787T>C) in the Tissue‐Nonspecific Alkaline Phosphatase Gene Associated With BMD
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与 BMD 相关的组织非特异性碱性磷酸酶基因单核苷酸多态性 (787T>C) 的功能分析
DOI：
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发表时间：
2004
影响因子：
6.2
通讯作者：
T. Hosoi
中科院分区：
文献类型：
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作者：
M. Goseki‐Sone;N. Sogabe;M. Fukushi;Lena Mizoi;H. Orimo;Takao Suzuki;Hiroyuki Nakamura;H. Orimo;T. Hosoi
TNSALP基因的多态性以前没有被研究作为BMD变化的可能决定因素或作为骨质疏松症的易感遗传因素。本研究显示，在501名绝经后妇女中，787T>C（Tyr246His）TNSALP基因与BMD之间存在显著较高的相关性。此外，还研究了氨基酸取代对787T>C基因翻译蛋白催化性质的影响。
Polymorphisms of the TNSALP gene have not previously been studied as a possible determinant for variations in BMD or as a predisposing genetic factor for osteoporosis. This study showed a significantly higher association between the 787T>C (Tyr246His) TNSALP gene and BMD among 501 postmenopausal women. Furthermore, the effects of amino acid substitution on the catalytic property of the protein translated from the 787T>C gene were examined.
检测紧密连锁标记之间的连锁不平衡：AI-CIII 载脂蛋白基因处的 RFLP。
影响因子：
9.8
作者：
Thompson,EA;Deeb,S;Walker,D;Motulsky,AG
通讯作者：
Motulsky,AG