Mutation screening of the medium-chain acyl-CoA dehydrogenase (MCAD) and the ornithine transcarbamylase (OTC) genes by multiplex PCR amplification and sequencing

Clinical Chemistry and Laboratory Medicine

Volumn 47, Issue 1, 2009, Pages 56-59

  Horn, Michael P ^a   Mäder Heinemann, Gabriela ^a   Andrey, Gisela ^a   Largiadèr, Carlo R ^a  

^a UNIVERSITY OF BERN   (Switzerland)

Author keywords

DNA sequencing; Multiplex PCR; Mutation screening

Indexed keywords

MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE; ORNITHINE CARBAMOYLTRANSFERASE;

ARTICLE; DNA SEQUENCE; EXON; GENE AMPLIFICATION; MULTIPLEX POLYMERASE CHAIN REACTION; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; QUALITATIVE ANALYSIS; SCREENING TEST; SIGNAL NOISE RATIO;

ACYL-COA DEHYDROGENASE; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; MUTATION; ORNITHINE CARBAMOYLTRANSFERASE; POLYMERASE CHAIN REACTION;

EID: 58149260253     PISSN: 14346621     EISSN: 14374331     Source Type: Journal    
DOI: 10.1515/CCLM.2009.012     Document Type: Article

References (3)

1. Waddell L, Wiley V, Carpenter K, Bennetts B, Angel L, Andresen BS, et al. Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations. Mol Genet Metab 2006;87:32-9.
2. Yamaguchi S, Brailey LL, Morizono H, Bale AE, Tuchman M. Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene. Hum Mutat 2006;27:626-32.
3. Henegariu O, Heerema NA, Dlouhy SR, Vance GH, Vogt PH. Multiplex PCR: critical parameters and step-by-step protocol. Biotechniques 1997;23:504-11.