Familial hypercholesterolemia in St. Petersburg: Diversity of mutations argues against a strong founder effect

Familial hypercholesterolemia in St. Petersburg: Diversity of mutations argues against a strong... Examination of low-density lipoprotein (LDL) receptor gene, its promoter, and most of exon-intron boundaries from 74 probands with familial hypercholesterolemia (FH) of St. Petersburg revealed 34 mutations and 8 widely spread polymorphisms at this locus. Only four mutations were considered neutral, while the other 30 are likely to cause familial hypercholesterolemia (FH). Mutations in the LDL receptor gene, causing the disease, were identified in 41 (55%) out of 74 families with FH. Mutation R3500Q in apolipoprotein B (APOB) gene was not detected in all probands. Therefore in the families lacking mutations hypercholesterolemia was caused by mutations in the introns of the LDL receptor gene or by other genetic factors. Nineteen mutations causing disease progression were described in St. Petersburg for the first time, while 18 of them are specific for Russia. Among Ashkenazi Jews, predominant mutation G197del was detected in 30% (7 out of 22) of patients with FH. In the Slavic population of St. Petersburg, no predominant mutations were detected. Only five mutations were identified in two Slavic families, while 24 were found in unique families. These data are indicative of the lack of a strong founder effect for FH in the St. Petersburg population. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Russian Journal of Genetics Springer Journals

Familial hypercholesterolemia in St. Petersburg: Diversity of mutations argues against a strong founder effect

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Publisher
Nauka/Interperiodica
Copyright
Copyright © 2007 by Pleiades Publishing, Inc.
Subject
Biomedicine; Human Genetics; Animal Genetics and Genomics; Microbial Genetics and Genomics
ISSN
1022-7954
eISSN
1608-3369
D.O.I.
10.1134/S1022795407090116
Publisher site
See Article on Publisher Site

Abstract

Examination of low-density lipoprotein (LDL) receptor gene, its promoter, and most of exon-intron boundaries from 74 probands with familial hypercholesterolemia (FH) of St. Petersburg revealed 34 mutations and 8 widely spread polymorphisms at this locus. Only four mutations were considered neutral, while the other 30 are likely to cause familial hypercholesterolemia (FH). Mutations in the LDL receptor gene, causing the disease, were identified in 41 (55%) out of 74 families with FH. Mutation R3500Q in apolipoprotein B (APOB) gene was not detected in all probands. Therefore in the families lacking mutations hypercholesterolemia was caused by mutations in the introns of the LDL receptor gene or by other genetic factors. Nineteen mutations causing disease progression were described in St. Petersburg for the first time, while 18 of them are specific for Russia. Among Ashkenazi Jews, predominant mutation G197del was detected in 30% (7 out of 22) of patients with FH. In the Slavic population of St. Petersburg, no predominant mutations were detected. Only five mutations were identified in two Slavic families, while 24 were found in unique families. These data are indicative of the lack of a strong founder effect for FH in the St. Petersburg population.

Journal

Russian Journal of GeneticsSpringer Journals

Published: Sep 27, 2007

References

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