Ramesh V, Eddy R, Bruns G A, Shih V E, Shows T B, Gusella J F
Hum Genet. 1987 Jun;76(2):121-6. doi: 10.1007/BF00284906.
We have used a full length cDNA clone to determine the chromosomal location of the gene encoding human ornithine aminotransferase (OAT), a mitochondrial matrix enzyme. Southern blot analysis of Sca I-digested DNA from 34 human-mouse somatic cell hybrids revealed 11 human fragments. Three fragments mapped to chromosome 10q23-10qter, confirming the previous provisional assignment of the functional gene to this autosome by analysis of OAT expression in somatic cell hybrids (O'Donnell et al. 1985). The remaining eight fragments were assigned to the X chromosome, and regionally assigned to Xp21-Xp11 by use of an X-chromosome mapping panel. These X chromosome sequences could represent pseudogenes, or related members of a multigene family. Two of the X chromosome fragments are alternate alleles of a restriction fragment length polymorphism (RFLP) making this OAT-related locus an excellent genetic marker. The RFLP may now be used to determine any possible relationship between this locus and several X-linked eye defects.
我们利用一个全长cDNA克隆来确定编码人鸟氨酸转氨酶（OAT，一种线粒体基质酶）的基因的染色体定位。对来自34个人-鼠体细胞杂种的经Sca I消化的DNA进行Southern印迹分析，发现了11条人类片段。三条片段定位于染色体10q23 - 10qter，通过对体细胞杂种中OAT表达的分析，证实了之前将功能基因临时定位于这条常染色体上的结果（O'Donnell等人，1985年）。其余八条片段定位于X染色体，并通过使用X染色体定位板将其区域定位于Xp21 - Xp11。这些X染色体序列可能代表假基因，或者是一个多基因家族的相关成员。其中两条X染色体片段是限制性片段长度多态性（RFLP）的交替等位基因，使得这个与OAT相关的基因座成为一个优秀的遗传标记。现在可以利用该RFLP来确定这个基因座与几种X连锁眼部缺陷之间的任何可能关系。
