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A novel splicing mu...
A novel splicing mutation causes an undescribed type of analbuminemia.
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Campagnoli, Monica (författare)
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Rossi, Antonio (författare)
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- Palmqvist, Lars, 1965 (författare)
- Gothenburg University,Göteborgs universitet,Institutionen för laboratoriemedicin, Avdelningen för klinisk kemi/transfusionsmedicin,Institute of Laboratory Medicine, Dept of Clinical Chemistry/Transfusion Medicine
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visa fler...
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- Flisberg, Anders, 1958 (författare)
- Gothenburg University,Göteborgs universitet,Institutionen för kvinnors och barns hälsa, Avdelningen för pediatrik,Institute for the Health of Women and Children, Dept of Paediatrics
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- Niklasson, Aimon, 1945 (författare)
- Gothenburg University,Göteborgs universitet,Institutionen för kvinnors och barns hälsa, Avdelningen för pediatrik,Institute for the Health of Women and Children, Dept of Paediatrics
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Minchotti, Lorenzo (författare)
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Galliano, Monica (författare)
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visa färre...
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(creator_code:org_t)
- 2002
- 2002
- Engelska.
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Ingår i: Biochimica et biophysica acta. - 0006-3002. ; 1586:1, s. 43-9
- Relaterad länk:
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https://gup.ub.gu.se...
Abstract
Ämnesord
Stäng
- Analbuminemia is a rare autosomal recessive disorder manifested by the absence or severe reduction of circulating serum albumin in homozygous subjects. In this report we describe a new molecular defect that caused the analbuminemic trait in a newborn of Iraqi origin. When the parents' DNA was analyzed, both subjects were found to be heterozygous for the same mutation found in the infant. All the 14 exon and flanking intron sequences of the albumin gene were amplified via PCR and screened for mutations by SSCP and heteroduplex analysis. A mutation in the DNA region encoding exon 1 and its flanking intron was revealed by the presence of a heteroduplex. The fragment, which was directly DNA sequenced, contains a previously unreported single nucleotide change, consisting in a G to A substitution at nucleotide 118 in the structural gene of the human protein. This mutation, involving the first base of intron 1, destroys the GT dinucleotide consensus sequence found at the 5' end of most intervening sequences and causes the defective pre-mRNA splicing responsible for the analbuminemic trait.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Klinisk laboratoriemedicin (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Clinical Laboratory Medicine (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Nyckelord
- Adult
- Consensus Sequence
- Female
- Genotype
- Heteroduplex Analysis
- Humans
- Infant
- Newborn
- Iraq
- ethnology
- Male
- Mutation
- Polymerase Chain Reaction
- Polymorphism
- Single-Stranded Conformational
- RNA Splicing
- Serum Albumin
- deficiency
- genetics
- Sweden
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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