Smith M, Weiss M J, Griffin C A, Murray J C, Buetow K H, Emanuel B S, Henthorn P S, Harris H
Department of Pediatrics, University of California, Irvine 92715.
Genomics. 1988 Feb;2(2):139-43. doi: 10.1016/0888-7543(88)90095-x.
We have used three different methods to map the human liver/bone/kidney alkaline phosphatase (ALPL) locus: (1) Southern blot analysis of DNA derived from a panel of human-rodent somatic cell hybrids; (2) in situ hybridization to human chromosomes; and (3) genetic linkage analysis. Our results indicate that the ALPL locus maps to human chromosome bands 1p36.1-p34 and is genetically linked to the Rh (maximum lod score of 15.66 at a recombination value of 0.10) and fucosidase A (maximum lod score of 8.24 at a recombination value of 0.02) loci. These results, combined with restriction fragment length polymorphisms identified by ALPL DNA probes, provide a useful marker for gene mapping studies involving the short arm of chromosome 1. In addition, our results help to elucidate further the structure and evolution of the human alkaline phosphatase multigene enzyme family.
我们使用了三种不同的方法来定位人类肝/骨/肾碱性磷酸酶(ALPL)基因座:(1)对一组人-鼠体细胞杂种的DNA进行Southern印迹分析;(2)对人类染色体进行原位杂交;(3)遗传连锁分析。我们的结果表明,ALPL基因座定位于人类染色体带1p36.1-p34,并且与Rh(重组值为0.10时最大lod分数为15.66)和岩藻糖苷酶A(重组值为0.02时最大lod分数为8.24)基因座存在遗传连锁。这些结果,结合由ALPL DNA探针鉴定的限制性片段长度多态性,为涉及1号染色体短臂的基因定位研究提供了一个有用的标记。此外,我们的结果有助于进一步阐明人类碱性磷酸酶多基因酶家族的结构和进化。