Prevalence and geographical distribution of major LDL receptor gene rearrangements in Finland
Autor: | Markku J. Savolainen, Tatu A. Miettinen, Kimmo Kontula, Ulla-Maija Koivisto, I. Mononen, Jorma Viikari, H Turtola, T. Ebeling, Katriina Aalto-Setälä, Kesäniemi Ya, Helena Gylling, K. Pyörälä |
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Rok vydání: | 1992 |
Předmět: |
030204 cardiovascular system & hematology
Biology medicine.disease_cause 03 medical and health sciences chemistry.chemical_compound Exon 0302 clinical medicine Prevalence Internal Medicine medicine Humans Allele Receptor Gene Finland 030304 developmental biology Southern blot Gene Rearrangement Genetics 0303 health sciences Mutation Nucleic Acid Hybridization DNA Molecular biology Blotting Southern Receptors LDL chemistry Low-density lipoprotein RNA |
Zdroj: | Journal of Internal Medicine. 231:227-234 |
ISSN: | 1365-2796 0954-6820 |
DOI: | 10.1111/j.1365-2796.1992.tb00528.x |
Popis: | In order to determine the prevalence of major rearrangements of the low density lipoprotein (LDL) receptor gene in Finland, DNA samples of 199 unrelated Finnish patients with the heterozygous form of familial hypercholesterolaemia (FH) were examined by Southern blot analysis. The FH-Helsinki mutation, characterized by a 9.5-kb deletion in the 3′-end of the LDL receptor gene, was found in 75 (38%) of the patients. The prevalence of this mutation ranged from 26–58% in different areas of Finland. A striking exception was the north karelia region, where only one out of 26 (4%) FH patients was found to carry the FH-Helsinki allele. Two patients were found to carry other types of large nucleotide rearrangements of the LDL receptor gene. One mutation was a 7.5-kb deletion eliminating exons 7 to 10, and the other was a 13-kb deletion covering exons 11 to 16 of the LDL receptor gene. Serum lipoprotein levels were very similar in each category of mutation, i.e. in patients with the FH-Helsinki gene, those with the two other types of deletion, and the remaining patients with as yet unknown types of LDL receptor gene defects. These results show that, even in genetically uniform populations, FH may be heterogeneous at the DNA level. DNA techniques enable an unequivocal diagnosis for almost 40% of the Finnish patients with the heterozygous form of FH. |
Databáze: | OpenAIRE |
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