人氨甲酰磷酸合成酶I（CPS1）的物理图谱和连锁图谱绘制以及其定位从2p重新确定到2q35。
Physical and linkage mapping of human carbamyl phosphate synthetase I (CPS1) and reassignment from 2p to 2q35.
作者信息
Summar M L, Dasouki M J, Schofield P J, Krishnamani M R, Vnencak-Jones C, Tuchman M, Mao J, Phillips J A
机构信息
Department of Pediatrics, Vanderbilt University Medical School, Nashville, TN 37232, USA.
出版信息
Cytogenet Cell Genet. 1995;71(3):266-7. doi: 10.1159/000134124.
PMID:7587391
Abstract
Carbamyl Phosphate Synthetase I (CPS1) (EC 6.3.4.16) is a highly conserved mitochondrial enzyme catalyzing the first committed step of waste nitrogen metabolism in the urea cycle. Using FISH for physical mapping and CEPH families for linkage analysis, we mapped the CPS1 gene (CPS1) to 2q34-->q35, reassigning it from 2p where it was originally mapped.
摘要
氨甲酰磷酸合成酶I（CPS1）（EC 6.3.4.16）是一种高度保守的线粒体酶，催化尿素循环中含氮废物代谢的首个关键步骤。我们采用荧光原位杂交（FISH）进行物理图谱绘制，并利用CEPH家系进行连锁分析，将CPS1基因定位于2q34→q35，从而将其从最初定位的2p重新定位至此。
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