Ledley F D, Lumetta M R, Zoghbi H Y, VanTuinen P, Ledbetter S A, Ledbetter D H
Howard Hughes Medical Institute, Department of Cell Biology, Baylor College of Medicine, Houston, TX 77030.
Am J Hum Genet. 1988 Jun;42(6):839-46.
Methylmalonyl CoA mutase (MCM) catalyzes an essential step in the degradation of several branch-chain amino acids and odd-chain fatty acids. Deficiency of this apoenzyme causes the mut form of methylmalonic acidemia, an often fatal disorder of organic acid metabolism. An MCM cDNA has recently been obtained from human liver cDNA libraries. This clone has been used as a probe to determine the chromosomal location of the MCM gene and MUT locus. Southern blot analysis of DNA from human-hamster somatic-cell hybrid cell lines assigned the locus to region q12-p23 of chromosome 6. In situ hybridization further localized the locus to the region 6p12-21.2. A highly informative RFLP was identified at the MCM gene locus which will be useful for genetic diagnostic and linkage studies.
甲基丙二酰辅酶A变位酶（MCM）催化几种支链氨基酸和奇数链脂肪酸降解过程中的一个关键步骤。这种脱辅基酶的缺乏会导致甲基丙二酸血症的突变形式，这是一种常为致命性的有机酸代谢紊乱疾病。最近已从人肝脏cDNA文库中获得了MCM cDNA。该克隆已被用作探针来确定MCM基因和MUT基因座的染色体定位。对人-仓鼠体细胞杂交细胞系的DNA进行Southern印迹分析，将该基因座定位于6号染色体的q12-p23区域。原位杂交进一步将该基因座定位到6p12-21.2区域。在MCM基因座上鉴定出一个信息丰富的限制性片段长度多态性（RFLP），这将有助于遗传诊断和连锁研究。
