Matsubara Y, Narisawa K, Miyabayashi S, Tada K, Coates P M, Bachmann C, Elsas L J, Pollitt R J, Rhead W J, Roe C R
Department of Biochemical Genetics, Tohoku University School of Medicine, Sendai, Japan.
Biochem Biophys Res Commun. 1990 Aug 31;171(1):498-505. doi: 10.1016/0006-291x(90)91421-n.
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is one of the most common recessively inherited metabolic diseases in man. We have studied fibroblast cultures obtained from three patients with MCAD deficiency by sequencing the entire coding region of MCAD mRNA. A single A to G nucleotide replacement which resulted in lysine329-to-glutamic acid329 substitution of the MCAD protein was identified in all cultures. Furthermore, this point mutation was present in 91% (31 of 34) of mutant MCAD alleles, indicating that the majority of cases with MCAD deficiency are caused by this type of mutation.
中链酰基辅酶A脱氢酶（MCAD）缺乏症是人类最常见的隐性遗传代谢疾病之一。我们通过对MCAD mRNA的整个编码区进行测序，研究了从三名MCAD缺乏症患者获取的成纤维细胞培养物。在所有培养物中均鉴定出单个A到G核苷酸置换，该置换导致MCAD蛋白的赖氨酸329被谷氨酸329取代。此外，该点突变存在于91%（34个中的31个）的突变MCAD等位基因中，表明大多数MCAD缺乏症病例是由这种类型的突变引起的。
