FEBS Letters | |
The Finnish type of the LDL receptor gene mutation: Molecular characterization of the deleted gene and the corresponding mRNA | |
Aalto-Setälä, Katriina1  | |
[1] Recombinant DNA Laboratory, University of Helsinki, Valimotie 7, SF-00380 Helsinki, Finland | |
关键词: Hypercholesterolemia; LDL receptor gene; DNA deletion; Southern blotting; Northern blotting; Oligonucleotide probe; | |
DOI : 10.1016/0014-5793(88)80127-3 | |
学科分类:生物化学/生物物理 | |
来源: John Wiley & Sons Ltd. | |
【 摘 要 】
In one third of Finnish patients with the heterozygous form of familial hypercholesterolemia the disease is due to a gross deletion at the 3′-end of the LDL receptor gene. The present study demonstrates that an 8-kb deletion completely eliminates exons 16 and 17 and a part of exon 18. Cloning and partial sequencing of a DNA fragment from the mutated allele indicated that the 5′-boundary of the deletion lies within intron 15 while the 3′-breakpoint is located at nucleotide 3390 in exon 18. RNA blot hybridization studies revealed that the mutated allele encodes a truncated 4.2 kb mRNA (normal, 5.3 kb). This type of mutation has not been reported in other ethnic groups.
【 授权许可】
Unknown
【 预 览 】
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