Abstract | BACKGROUND: METHODS: We screened the coding region of SLN for mutations using single strand conformation polymorphism/heteroduplex analysis on PCR-amplified genomic DNA from 95 unrelated LQTS patients, 59 SADS cases and 147 patients with atrial fibrillation (AF) and 92 controls. Aberrant conformers were sequenced. RESULTS: No mutations or polymorphisms were found in the coding sequence. A G>C transition in the highly conserved position +1 of the 3'untranslated region ( 3'UTR) was found in two SADS cases. A polymorphism, a G>C transition at position -65 in the 5'untranslated region ( 5'UTR), was found with a G allele frequency of 0.48. A borderline significant difference in genotype distribution of the latter polymorphism was found between the AF group and controls. CONCLUSION: Mutations in the coding region of SLN are not frequently involved in LQTS, SADS or AF. Whether the described 3'- and 5'UTR variants have functional significance must await further studies.
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Authors | Mia Titine Nyberg, Birgitte Stoevring, Elijah Raphael Behr, Lasse Steen Ravn, William J McKenna, Michael Christiansen |
Journal | Clinica chimica acta; international journal of clinical chemistry
(Clin Chim Acta)
Vol. 375
Issue 1-2
Pg. 87-91
(Jan 2007)
ISSN: 0009-8981 [Print] Netherlands |
PMID | 17010328
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Muscle Proteins
- Proteolipids
- sarcolipin
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Topics |
- Adolescent
- Adult
- Aged
- Aged, 80 and over
- Animals
- Atrial Fibrillation
(epidemiology, genetics)
- Base Sequence
- Case-Control Studies
- Child
- Child, Preschool
- Conserved Sequence
- Death, Sudden, Cardiac
(epidemiology)
- Genetic Variation
- Humans
- Long QT Syndrome
(epidemiology, genetics)
- Middle Aged
- Muscle Proteins
(genetics)
- Polymorphism, Single-Stranded Conformational
- Proteolipids
(genetics)
- Sequence Alignment
- Sequence Analysis, DNA
- Syndrome
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