Yi H, Donohue S J, Klein D C, McBride O W
Laboratory of Biochemistry, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892.
Hum Mol Genet. 1993 Feb;2(2):127-31. doi: 10.1093/hmg/2.2.127.
The human hydroxyindole-O-methyltransferase (HIOMT) gene has been mapped to the X chromosome using cDNA probes from the 3' and 5' regions of a human cDNA clone. Southern blot analysis of a panel of human-rodent somatic cell hybrid DNAs revealed that the gene was localized to the short arm of chromosome X, and most probably the pseudoautosomal region of the human X (Xp22.3) and Y (Yp11.3) chromosomes. Several multiallelic restriction fragment length polymorphisms were detected at this locus allowing further localization of the gene by two-point and multipoint linkage analysis in the 40 CEPH families. These results confirmed the pseudoautosomal localization of the HIOMT gene and allowed ordering of the gene in close proximity to DXYS17 at a position about 600-800 kb from the pseudoautosomal boundary and about 1800 to 2000 kb from the telomere. It will be possible to readily identify or exclude the involvement of this gene in genetic diseases by linkage analysis of the disease locus with the high frequency multiallelic polymorphisms at this locus.
利用来自人类cDNA克隆3'和5'区域的cDNA探针，已将人类羟基吲哚-O-甲基转移酶（HIOMT）基因定位到X染色体上。对一组人类-啮齿动物体细胞杂交DNA进行的Southern印迹分析表明，该基因定位于X染色体的短臂，很可能位于人类X（Xp22.3）和Y（Yp11.3）染色体的拟常染色体区域。在该位点检测到了几种多等位基因限制性片段长度多态性，从而可以通过对40个CEPH家系进行两点和多点连锁分析对该基因进行进一步定位。这些结果证实了HIOMT基因的拟常染色体定位，并确定了该基因在距离拟常染色体边界约600-800 kb、距离端粒约1800至2000 kb的位置，紧邻DXYS17。通过对疾病位点与该位点高频多等位基因多态性进行连锁分析，将有可能轻松识别或排除该基因与遗传疾病的关联。
