β-珠蛋白基因座与甲状旁腺激素（PTH）基因座相连，且在人类中位于胰岛素基因座和PTH基因座之间。
Beta-globin locus is linked to the parathyroid hormone (PTH) locus and lies between the insulin and PTH loci in man.
作者信息
Antonarakis S E, Phillips J A, Mallonee R L, Kazazian H H, Fearon E R, Waber P G, Kronenberg H M, Ullrich A, Meyers D A
出版信息
Proc Natl Acad Sci U S A. 1983 Nov;80(21):6615-9. doi: 10.1073/pnas.80.21.6615.
Using a parathyroid hormone (PTH) cDNA probe we found a common Pst I polymorphic restriction site 3' to the PTH gene in all ethnic groups examined. Because the PTH, insulin, and beta-globin loci have been localized to the short arm of chromosome 11 (11p) we used DNA polymorphisms adjacent to each of these three loci to determine whether they are genetically linked and to determine their order. We found that the PTH and beta-globin loci are closely linked (estimated recombination fraction, 0.07; 95% confidence limits, 0.05-0.10; lod score, 4.63; odds favoring linkage, 42,000:1). Furthermore, our findings strongly indicate that the beta-globin gene cluster lies between the PTH and insulin loci. Therefore, the gene order on 11p is centromere-PTH-beta-globin-insulin.
利用甲状旁腺激素（PTH）cDNA探针，我们在所有检测的种族群体中发现，PTH基因3'端存在一个常见的Pst I多态性限制性位点。由于PTH、胰岛素和β-珠蛋白基因座已定位到11号染色体短臂（11p），我们利用这三个基因座附近的DNA多态性来确定它们是否存在遗传连锁，并确定它们的顺序。我们发现PTH和β-珠蛋白基因座紧密连锁（估计重组率为0.07；95%置信区间为0.05 - 0.10；连锁值为4.63；支持连锁的比值为42,000:1）。此外，我们的研究结果有力地表明，β-珠蛋白基因簇位于PTH和胰岛素基因座之间。因此，11p上的基因顺序为着丝粒 - PTH - β-珠蛋白 - 胰岛素。
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