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Publication : Gene for OTC: characterisation and linkage to Duchenne muscular dystrophy.

First Author  Davies KE Year  1985
Journal  Nucleic Acids Res Volume  13
Issue  1 Pages  155-65
PubMed ID  3839070 Mgi Jnum  J:20232
Mgi Id  MGI:68340 Doi  10.1093/nar/13.1.155
Citation  Davies KE, et al. (1985) Gene for OTC: characterisation and linkage to Duchenne muscular dystrophy. Nucleic Acids Res 13(1):155-65
abstractText  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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