Abstract |
Systematic screening using the SSCP technique followed by sequencing of bands with abnormal mobility derived from the AGXT exons of 15 unrelated Italian patients with primary hyperoxaluria type 1 (PH1) allowed us to characterize both the mutant alleles in each individual. Eight new mutations were identified: C155del, C156ins, G244T, C252T, GAG408ins, G468A, G588A and G1098del. This study demonstrates both the effectiveness of the screening strategy chosen to identify all the mutant alleles and the high degree of allelic heterogeneity in PH1.
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Authors | D Pirulli, D Puzzer, L Ferri, S Crovella, A Amoroso, C Ferrettini, M Marangella, G Mazzola, F Florian |
Journal | Human genetics
(Hum Genet)
Vol. 104
Issue 6
Pg. 523-5
(Jun 1999)
ISSN: 0340-6717 [Print] Germany |
PMID | 10453743
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Transaminases
- glyoxylate aminotransferase
- Alanine
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Topics |
- Alanine
(genetics)
- Base Sequence
- Exons
- Gene Deletion
- Humans
- Hyperoxaluria
(genetics)
- Italy
- Molecular Sequence Data
- Mutation
- Point Mutation
- Polymorphism, Genetic
- Polymorphism, Single-Stranded Conformational
- Sequence Analysis, DNA
- Transaminases
(genetics, metabolism)
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