Analysis of the human alpha-globin gene cluster reveals a highly informative genetic locus.
Analysis of the human alpha-globin gene cluster reveals a highly informative genetic locus.
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对人类α珠蛋白基因簇的分析揭示了一个信息丰富的遗传位点。
DOI：
10.1073/pnas.83.14.5165
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发表时间：
1986
影响因子：
11.1
通讯作者：
A. Falusi
中科院分区：
文献类型：
--
作者：
D. Higgs;J. Wainscoat;J. Flint;A. Hill;S. Thein;R. Nicholls;H. Teal;H. Ayyub;T. Peto;A. Falusi
广泛的分子生物学研究表明，人类α-珠蛋白基因簇内存在15个二态性和2个多等位基因遗传标记。在9个群体中对这些标记的分析表明，α-珠蛋白基因座具有显著的多态性，因此是用于构建人类遗传连锁图的16号染色体上的理想标记。9个多态性标记的联合分析建立了α-珠蛋白单倍型，为研究该簇的分子遗传学和常见突变体提供了手段。传统的限制性片段长度多态性单倍型和连锁的DNA高变区的新关联应该允许比较这些标记的变化率。
Extensive molecular studies have characterized 15 dimorphic and 2 multiallelic genetic markers within the human alpha-globin gene cluster. Analysis of these markers in 9 populations has shown that the alpha-globin locus is remarkably polymorphic and is therefore an ideal marker on chromosome 16 for the construction of a human genetic linkage map. The combined analysis of 9 polymorphic markers has established alpha-globin haplotypes that provide the means to study the molecular genetics and common mutants of this cluster. The novel association of a conventional restriction fragment length polymorphism haplotype and linked, hypervariable regions of DNA should allow a comparison of the rate of change of such markers.