IDENTIFICATION OF A COMMON MUTATION IN PATIENTS WITH MEDIUM-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY

被引：110

作者：

MATSUBARA, Y

NARISAWA, K

MIYABAYASHI, S

TADA, K

COATES, PM

BACHMANN, C

ELSAS, LJ

POLLITT, RJ

RHEAD, WJ

ROE, CR

机构：

[1] TOHOKU UNIV,SCH MED,DEPT PEDIAT,SENDAI,MIYAGI 980,JAPAN

[2] CHILDRENS HOSP PHILADELPHIA,DEPT PEDIAT,PHILADELPHIA,PA 19104

[3] CHU VAUDOIS,CENT CHIM CLIN LAB,CH-1011 LAUSANNE,SWITZERLAND

[4] EMORY UNIV,SCH MED,DEPT PEDIAT,ATLANTA,GA 30322

[5] CHILDRENS HOSP,SHEFFIELD S10 2TH,S YORKSHIRE,ENGLAND

[6] UNIV IOWA HOSP & CLIN,DEPT PEDIAT,IOWA CITY,IA 52242

[7] DUKE UNIV,MED CTR,DEPT PEDIAT,DURHAM,NC 27710

来源：

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS | 1990年 / 171卷 / 01期

关键词：

D O I：

10.1016/0006-291X(90)91421-N

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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. © 1990.

引用

页码：498 / 505

页数：8

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