Open AccessGene for OTC: characterisation and linkage to Duchenne muscular dystrophy
Author(s) -
Kay E. Davies,
Pascale Briand,
Victor Ionâşescu,
G. Ionasescu,
R. Wilhiamson,
Christina Brown,
Catherine Cavard,
L Cathelineau
Publication year - 1985
Publication title -
nucleic acids research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 9.008
H-Index - 537
eISSN - 1362-4954
pISSN - 0305-1048
DOI - 10.1093/nar/13.1.155
Subject(s) - biology , duchenne muscular dystrophy , microbiology and biotechnology , restriction fragment length polymorphism , genetics , complementary dna , coding region , cdna library , southern blot , gene , ornithine transcarbamylase , mutation , polymerase chain reaction , urea cycle , amino acid , arginine
Cloned coding sequences for rat and human ornithine transcarbamylase (OTC) were obtained by screening a rat and a human cDNA library respectively with a synthetic oligonucleotide corresponding to 27 bases of the rat sequence. These clones, 1100 bp long for the rat clone and 1300 bp for the human, contain approximately 80% of the human OTC coding sequence. The OTC mRNA length determined by Northern blot analysis is 1700bp. The human OTC sequence was shown to be localised Xp11.4-Xp21 using somatic cell hybrids. There is a frequent RFLP revealed with the restriction enzyme MspI. OTC is located more closely to the Duchenne muscular dystrophy mutation than previously reported markers such as RC8 and L1.28, and therefore should prove useful in carrier detection and haplotype analysis of families carrying the mutation causing the disease.
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