Identification of a deletion in the LDL receptor gene A Finnish type of mutation

FEBS Letters

Aalto-setälä, Katriina¹  Gylling, Helena²  Miettinen, Tatu²  Kontula, Kimmo¹ 

[1] Recombinant DNA Laboratory, University of Helsinki, Helsinki, Finland;Second Department of Medicine, University of Helsinki, Helsinki, Finland

关键词: Familial hypercholesterolemia;    LDL receptor gene;    Southern blotting;    DNA deletion;   

DOI  :  10.1016/0014-5793(88)80635-5

学科分类：生物化学/生物物理

来源: John Wiley & Sons Ltd.

【 摘 要 】

A cDNA probe for the low density lipoprotein (LDL) receptor gene was used to screen DNA samples from 52 unrelated Finnish patients with the heterozygous form of familial hypercholesterolemia (FH) and 51 healthy controls. Southern blot analysis using the restriction enzyme PvuII revealed an abnormal 11 kb (kilo base-pair) restriction fragment in 16 (31%) of the patients but none of the controls. A more detailed restriction enzyme analysis of the DNA from patients revealed a mutation which apparently is due to an 8 kb deletion extending from intron 15 to exon 18 of the LDL receptor gene. Co-segregation of FH with the mutated gene was demonstrated in three families. These data are consistent with a ‘founder gene effect’ and support the assumption that recombinant DNA methods may have great impact on the diagnostics of FH in genetically homogeneous populations.

【 授权许可】

Unknown