Junien C, Despoisse S, Turleau C, de Grouchy J, Bucher T, Fundele R
Ann Genet. 1982;25(1):25-7.
Human phosphoglycerate mutase (PGAM, EC 2.7.5.3) is under the control of two structural loci that code for subunits A and B. By means of gene-dosage studies, Bücher et al. (1980) have assigned the loci for GOT1 and PGAMA to chromosome 19 of Mus musculus. Because of the known homologies between human and murine chromosomes, gene dosage studies were carried out in erythrocytes from one patient trisomic for the entire band 10q26 and from another patient monosomic for 10q26.2 and q26.3. Results were compatible with the assignment of PGAMA and GOT1 to 10q26.1 (or 10q25.3).
人磷酸甘油酸变位酶(PGAM,EC 2.7.5.3)受两个编码亚基A和B的结构基因座的控制。通过基因剂量研究,比歇尔等人(1980年)已将谷草转氨酶1(GOT1)和磷酸甘油酸变位酶A(PGAMA)的基因座定位到小家鼠的19号染色体上。由于已知人类和小鼠染色体之间存在同源性,因此对一名整条10q26带三体的患者以及另一名10q26.2和q26.3单体的患者的红细胞进行了基因剂量研究。结果与将PGAMA和GOT1定位到10q26.1(或10q25.3)相符。