Purrello M, Alhadeff B, Whittington E, Buckton K E, Daniel A, Arnaud P, Rocchi M, Archidiacono N, Filippi G, Siniscalco M
Cytogenet Cell Genet. 1987;44(1):32-40. doi: 10.1159/000132337.
The analysis of two rodent X human somatic cell hybrids, carrying different inborn translocations of the human chromosome 14 long arm, has permitted us to narrow down the localization of the structural locus for alpha-1-antitrypsin (PI) to band 14q32.1, proximally to the highly polymorphic DNA locus D14S1 which has been localized by previous studies between 14q32.1 and 14q32.2. These data, evaluated in conjunction with other published information, suggest that the D14S1 locus is cytologically equidistant from both the PI locus and the complex locus for the immunoglobulin heavy chains (IGH) but, genetically, it appears much closer to the latter since the recombination frequency reported between the IGH complex and PI is six times greater than that between the IGH complex and D14S1 (lod score peaks respectively at 26% and 4% with narrow fiducial limits). The present report adds further strength to the frequently proposed hypothesis of a nonlinear relationship between cytologic and genetic distances of human genes. The possibility that this phenomenon may be a feature of frequent occurrence throughout the entire human genome is discussed.
对两个携带人类14号染色体长臂不同先天性易位的啮齿动物X人类体细胞杂种进行分析后，我们得以将α-1-抗胰蛋白酶（PI）结构基因座的定位范围缩小至14q32.1带，该带位于先前研究定位在14q32.1和14q32.2之间的高度多态性DNA基因座D14S1的近端。结合其他已发表的信息对这些数据进行评估后发现，D14S1基因座在细胞学上与PI基因座和免疫球蛋白重链（IGH）复合基因座的距离相等，但在遗传学上，它似乎与后者更为接近，因为报道的IGH复合基因座与PI之间的重组频率是IGH复合基因座与D14S1之间重组频率的六倍（lod值峰值分别为26%和4%，置信区间狭窄）。本报告进一步支持了经常被提出的关于人类基因的细胞学距离与遗传距离之间存在非线性关系的假说。文中还讨论了这种现象可能是整个人类基因组中频繁出现的特征的可能性。
