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A novel mutation of coproporphyrinogen oxidase (CPO) gene in a Japanese family (1998)

Susa, Shinji ; Daimon, M. ; Yamamori, Ikuo ; [et al.]

Springer

Journal of human genetics 43 (1998), S. 182-184

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ISSN: 1435-232X

Keywords: Key words Hereditary coproporphyria ; Coproporphyrinogen oxidase ; Gene mutation ; Single base deletion ; Frame shift

Source: Springer Online Journal Archives 1860-2000

Topics: Biology , Medicine

Notes: Abstract Hereditary coproporphyria (HCP) is an autosomal dominant disease characterized by a deficiency of coproporphyrinogen oxidase (CPO). Only 11 mutations of the gene have been reported to date as the mutations responsible for HCP. We report here a novel mutation of the gene responsible for the disease in a Japanese family. Analysis of the polymerase chain reaction (PCR) amplified DNA fragments of the gene by direct-sequencing and/or cloning-based sequencing methods revealed the gene abnormality responsible for the disease. The mutation found was a single base deletion of T at nt position 526, which results in frame shift and truncation of coded protein at amino acid position 204. Screening of pre-symptomatic cases seemed to be possible by PCR restriction analysis using restriction enzyme Xcm I.

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1007/s100380050065

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Unique 3′-untranslated sequence of insulin-like growth factor-I isolated from human placenta (1991)

Daimon, M. ; Wang, C.-Y. ; Johnson, T. R. ; [et al.]

New York, NY [u.a.] : Wiley-Blackwell

Molecular Reproduction and Development 29 (1991), S. 238-244

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ISSN: 1040-452X

Keywords: IGF-IA ; Long 3′-end ; Expression ; Transcripts sizes ; Life and Medical Sciences ; Cell & Developmental Biology

Source: Wiley InterScience Backfile Collection 1832-2000

Topics: Biology

Notes: A cDNA clone of 525 bp corresponding to the 3′-untranslated region of insulin-like growth factor-I was isolated from a human placenta library. The sequence of this clone extended 200 nucleotides downstream from the previously reported 3′-end of IGF-IA cDNA, indicating the existence of IGF-IA transcripts having an even larger 3′-untranslated region. By using this clone for RNA transfer blot hybridization, it was shown that this longer 3′-untranslated region is included in the 7.5- and 5.0-kb transcripts, but not in the 1.1- and 0.9-kb transcripts. It is also apparent that transcripts bearing the extended 3′-untranslated sequence are highly expressed in human placenta.

Additional Material: 4 Ill.