Six New Mutations in the Ornithine Transcarbamylase Gene Detected by Single-Strand Conformational Polymorphism
نویسندگان
چکیده
منابع مشابه
Detection of Mutations by Single-strand Conformational Polymorphism.
MATERIALS 10x Amplification buffer Include 0.01% (w/v) gelatin in the buffer. 10x TBE electrophoresis buffer Use TBE at a working strength of 1x (89 mM Tris-borate, 2 mM EDTA) for polyacrylamide gel electrophoresis. 6x Gel-loading buffer I Formamide loading buffer Human genomic DNA to be screened for point mutations Dissolve the DNA at 10 μg/ml in TE (pH 7.6). Oligonucleotide primers, forward a...
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Ornithine transcarbamylase (OTC) is one of the enzymes involved in the urea cycle. OTC deficiency, which is caused by impaired synthesis of OTC in the liver, is the most common inherited disease of urea cycle disorders. In this paper, we describe the case of an OTC-deficient Japanese boy wherein an analysis based on high-density single-nucleotide polymorphisms (SNPs) revealed the absence of the...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1992
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-199211000-00024