The Finnish type of the LDL receptor gene mutation: Molecular characterization of the deleted gene and the corresponding mRNA

FEBS Letters

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