Maekawa M, Sudo K, Kanno T, Li S S
Laboratory of Genetics, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, North Carolina 27709.
Biochem Biophys Res Commun. 1990 Apr 30;168(2):677-82. doi: 10.1016/0006-291x(90)92374-9.
Human lactate dehydrogenase-A mutant gene was isolated from the genomic DNA library of a patient deficient in LDH-A (Muscle) subunit. The nucleotide sequences of seven protein-coding exons were determined and a deletion of 20 base-pairs in exon 6 was found. This mutation results in a frame-shift translation and premature termination. The predicted incomplete LDH-A (M) subunit containing only 259 instead of 331 amino acids appears to be degraded rapidly, since no protein was detected immunologically (Maekawa et al., Am J Hum Genet 39:232-238, 1986). In addition, three synonymous (silent) substitutions, A to C, T to C, and G to A, were observed at codons 115, 160 and 172, respectively, in this LDH-A mutant gene.
从一名缺乏乳酸脱氢酶A（肌肉）亚基的患者的基因组DNA文库中分离出人类乳酸脱氢酶A突变基因。测定了七个蛋白质编码外显子的核苷酸序列，发现外显子6中有20个碱基对的缺失。这种突变导致移码翻译和提前终止。预测的不完整乳酸脱氢酶A（M）亚基仅含有259个氨基酸而非331个氨基酸，似乎会迅速降解，因为免疫检测未检测到蛋白质（前川等人，《美国人类遗传学杂志》39:232 - 238，1986年）。此外，在该乳酸脱氢酶A突变基因中，分别在密码子115、160和172处观察到三个同义（沉默）替换，即A突变为C、T突变为C以及G突变为A。
