Prevalence and geographical distribution of major LDL receptor gene rearrangements in Finland
Abstract. 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‐Helsin...
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crwiley:10.1111/j.1365-2796.1992.tb00528.x 2024-06-02T08:09:45+00:00 Prevalence and geographical distribution of major LDL receptor gene rearrangements in Finland AALTO‐SETÄLÄ, K. KOIVISTO, U.‐M. MIETTINEN, T. A. GYLLING, H. KESÄNIEMI, Y. A. SAVOLAINEN, M. PYÖRÄLÄ, K. EBELING, T. MONONEN, I. TURTOLA, H. VIIKARI, J. KONTULA, K. 1992 http://dx.doi.org/10.1111/j.1365-2796.1992.tb00528.x https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1365-2796.1992.tb00528.x https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1365-2796.1992.tb00528.x en eng Wiley http://onlinelibrary.wiley.com/termsAndConditions#vor Journal of Internal Medicine volume 231, issue 3, page 227-234 ISSN 0954-6820 1365-2796 journal-article 1992 crwiley https://doi.org/10.1111/j.1365-2796.1992.tb00528.x 2024-05-03T10:45:22Z Abstract. 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. Article in Journal/Newspaper karelia* Wiley Online Library Journal of Internal Medicine 231 3 227 234 |
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Wiley Online Library |
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language |
English |
description |
Abstract. 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. |
format |
Article in Journal/Newspaper |
author |
AALTO‐SETÄLÄ, K. KOIVISTO, U.‐M. MIETTINEN, T. A. GYLLING, H. KESÄNIEMI, Y. A. SAVOLAINEN, M. PYÖRÄLÄ, K. EBELING, T. MONONEN, I. TURTOLA, H. VIIKARI, J. KONTULA, K. |
spellingShingle |
AALTO‐SETÄLÄ, K. KOIVISTO, U.‐M. MIETTINEN, T. A. GYLLING, H. KESÄNIEMI, Y. A. SAVOLAINEN, M. PYÖRÄLÄ, K. EBELING, T. MONONEN, I. TURTOLA, H. VIIKARI, J. KONTULA, K. Prevalence and geographical distribution of major LDL receptor gene rearrangements in Finland |
author_facet |
AALTO‐SETÄLÄ, K. KOIVISTO, U.‐M. MIETTINEN, T. A. GYLLING, H. KESÄNIEMI, Y. A. SAVOLAINEN, M. PYÖRÄLÄ, K. EBELING, T. MONONEN, I. TURTOLA, H. VIIKARI, J. KONTULA, K. |
author_sort |
AALTO‐SETÄLÄ, K. |
title |
Prevalence and geographical distribution of major LDL receptor gene rearrangements in Finland |
title_short |
Prevalence and geographical distribution of major LDL receptor gene rearrangements in Finland |
title_full |
Prevalence and geographical distribution of major LDL receptor gene rearrangements in Finland |
title_fullStr |
Prevalence and geographical distribution of major LDL receptor gene rearrangements in Finland |
title_full_unstemmed |
Prevalence and geographical distribution of major LDL receptor gene rearrangements in Finland |
title_sort |
prevalence and geographical distribution of major ldl receptor gene rearrangements in finland |
publisher |
Wiley |
publishDate |
1992 |
url |
http://dx.doi.org/10.1111/j.1365-2796.1992.tb00528.x https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1365-2796.1992.tb00528.x https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1365-2796.1992.tb00528.x |
genre |
karelia* |
genre_facet |
karelia* |
op_source |
Journal of Internal Medicine volume 231, issue 3, page 227-234 ISSN 0954-6820 1365-2796 |
op_rights |
http://onlinelibrary.wiley.com/termsAndConditions#vor |
op_doi |
https://doi.org/10.1111/j.1365-2796.1992.tb00528.x |
container_title |
Journal of Internal Medicine |
container_volume |
231 |
container_issue |
3 |
container_start_page |
227 |
op_container_end_page |
234 |
_version_ |
1800755529680683008 |