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人类载脂蛋白CII基因位点的双态标记

Dimorphic markers for the human apolipoprotein CII gene locus.

作者信息

Frossard P M, Coleman R T, Funke H, Assmann G

出版信息

Gene. 1987;51(1):103-6. doi: 10.1016/0378-1119(87)90480-x.

Abstract

Two restriction-site polymorphisms (RSP) have been detected when using a human apolipoprotein CII (apoCII) cDNA clone as a hybridization probe. These include a BanI and a TaqI RSP. Frequencies of the more common allele have been determined in a German population of 100 individuals and are 0.66 (BanI RSP) and 0.56 (TaqI RSP). Corresponding polymorphic information content (PIC) values are 0.36 and 0.37 for individual sites, and 0.58 for the BanI-TaqI pair of sites, making this locus a very informative (PIC-rich) marker for this region of chromosome 19. Haplotype studies also indicate the presence of allelic association (linkage disequilibrium) at the human apoCII gene locus.

摘要

当使用人载脂蛋白CII(apoCII)cDNA克隆作为杂交探针时,检测到两种限制性酶切位点多态性(RSP)。其中包括一个BanI RSP和一个TaqI RSP。已在100名德国人的群体中确定了较常见等位基因的频率,分别为0.66(BanI RSP)和0.56(TaqI RSP)。单个位点的相应多态信息含量(PIC)值分别为0.36和0.37,BanI - TaqI位点对的PIC值为0.58,这使得该基因座成为19号染色体该区域一个信息丰富(富含PIC)的标记。单倍型研究还表明人apoCII基因座存在等位基因关联(连锁不平衡)。

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