Detection of a frequent polymorphism in exon 10 of the low-density lipoprotein receptor gene
β Scribed by L. Warnich; M. J. Kotze; E. Langenhoven; A. E. Retief
- Publisher
- Springer
- Year
- 1992
- Tongue
- English
- Weight
- 90 KB
- Volume
- 89
- Category
- Article
- ISSN
- 0340-6717
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β¦ Synopsis
DNA sequencing of enzymatically-amplified exons of the low-density lipoprotein receptor gene from several individuals revealed a polymorphism in exon 10 of the gene. The codon for arginine 450 was converted from AGG to AGA in some alleles.
π SIMILAR VOLUMES
Using DNA sequencing of the coding and exon flanking regions of the low density lipoprotein receptor (LDLR) gene we identified an Alw26 I site in exon 10 by a transition G1426A. The alleles are represented by one uncut fragment (A1 = 108 bp) or two fragments (A2 = 82bp and 26 pb). Two other fragment
## Communicated by H. H. Dahl We report two novel frameshift mutations in exon 10 of the low-density lipoprotein receptor gene that lead to familial hypercholesterolemia in separate lineages. The lesions, FH-Sydney 1 and FH-Sydney 2, were detected by a modified heteroduplex analysis of exon-specif
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