人类21号染色体上干扰素-α受体基因内高信息含量DNA多态性的连锁图谱构建
Linkage mapping of highly informative DNA polymorphisms within the human interferon-alpha receptor gene on chromosome 21.
作者信息
McInnis M G, Lutfalla G, Slaugenhaupt S, Petersen M B, Uze G, Chakravarti A, Antonarakis S E
机构信息
Center for Medical Genetics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205.
出版信息
Genomics. 1991 Nov;11(3):573-6. doi: 10.1016/0888-7543(91)90064-l.
Two polymorphic loci within the interferon-alpha receptor (IFNAR) gene on human chromosome 21 have been identified and mapped by linkage analysis in 40 CEPH families. These markers are (1) a multiallelic RFLP with an observed heterozygosity of 0.72 and (2) a variable (AT3)n short sequence repeat at the poly(A) tail of an Alu sequence (AluVpA) with an observed heterozygosity of 0.83. This locus is close to D21S58 (theta = 0.02, zeta = 36.76) and D21S17 (theta = 0.02, Zeta = 21.76) with chromosomal band 21q22.1. Multipoint linkage analysis suggests the most likely locus order to be 21cen-D21S58-IFNAR-D21S17-21qter. Given its high heterozygosity, the IFNAR gene can be used as an index marker on human chromosome 21.
通过对40个CEPH家系进行连锁分析，已在人类21号染色体上的干扰素α受体（IFNAR）基因内鉴定并定位了两个多态性位点。这些标记物为：（1）一个观察到杂合度为0.72的多等位基因RFLP；（2）一个位于Alu序列（AluVpA）的多聚腺苷酸尾处的可变（AT3）n短序列重复，观察到的杂合度为0.83。该位点靠近21q22.1染色体带的D21S58（θ = 0.02，ζ = 36.76）和D21S17（θ = 0.02，ζ = 21.76）。多点连锁分析表明最可能的位点顺序为21cen-D21S58-IFNAR-D21S17-21qter。鉴于其高杂合度，IFNAR基因可作为人类21号染色体上的一个索引标记物。
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