Characterization and geographic distribution of the low density lipoprotein receptor (LDLR) gene mutations in northwestern Greece
Φόρτωση...
Ημερομηνία
Συγγραφείς
Miltiadous, G.
Elisaf, M. S.
Bairaktari, H.
Xenophontos, S. L.
Manoli, P.
Cariolou, M. A.
Τίτλος Εφημερίδας
Περιοδικό ISSN
Τίτλος τόμου
Εκδότης
Περίληψη
Τύπος
Είδος δημοσίευσης σε συνέδριο
Είδος περιοδικού
peer-reviewed
Είδος εκπαιδευτικού υλικού
Όνομα συνεδρίου
Όνομα περιοδικού
Hum Mutat
Όνομα βιβλίου
Σειρά βιβλίου
Έκδοση βιβλίου
Συμπληρωματικός/δευτερεύων τίτλος
Περιγραφή
Familial Hypercholesterolaemia (FH) is a clinical syndrome characterised by elevated serum total cholesterol levels due to an increase in low density lipoprotein (LDL) cholesterol, by tendon xanthomata and clinical manifestations of ischaemic heart disease in early life. Typically, it results from mutations in the low-density lipoprotein receptor (LDLR) gene. So far, over 600 mutations have been reported for the LDLR gene and account for FH. The nature of LDLR gene mutations is different in various ethnicities and has also regional distribution within each ethnicity. Eleven mutations have already been described in the Greek population. This report describes seven LDLR gene mutations accounting for FH in Northwestern Greece (81T>G, 517T>C, 858C>A, 1285G>A, 1352T>C, 1646G>A and 1775G>A) and their geographic distribution. We have recently described one of these mutations (1352T>C) as a novel point mutation in a Greek family originating from Northwestern Greece. Furthermore, two previously identified mutations (81T>C, 1775G>A) were also detected in the Greek FH patients for the first time. The 1775G>A mutation was responsible for all the homozygous patients in our area, indicating a founder effect. These data will favor the development of tailed information and screening programs in Northwestern Greece for the primary prevention of cardiovascular disease in FH patients.
Περιγραφή
Λέξεις-κλειδιά
Adolescent, Adult, Cardiovascular Diseases/blood/complications/epidemiology/genetics, Child, Cholesterol/blood, DNA Mutational Analysis, Exons/genetics, Female, Founder Effect, Gene Frequency, *Genetic Testing, Genotype, Greece/epidemiology, Humans, Hyperlipoproteinemia Type II/blood/complications/epidemiology/*genetics, Male, Middle Aged, Mutation/*genetics, Mutation, Missense/genetics, Receptors, LDL/*genetics
Θεματική κατηγορία
Παραπομπή
Σύνδεσμος
http://www.ncbi.nlm.nih.gov/pubmed/11317361
http://onlinelibrary.wiley.com/store/10.1002/humu.1121/asset/1121_ftp.pdf?v=1&t=h0m8wk9s&s=c1f58906d65882e87c1a9e8c49b129efffde21d9
http://onlinelibrary.wiley.com/store/10.1002/humu.1121/asset/1121_ftp.pdf?v=1&t=h0m8wk9s&s=c1f58906d65882e87c1a9e8c49b129efffde21d9
Γλώσσα
en
Εκδίδον τμήμα/τομέας
Όνομα επιβλέποντος
Εξεταστική επιτροπή
Γενική Περιγραφή / Σχόλια
Ίδρυμα και Σχολή/Τμήμα του υποβάλλοντος
Πανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικής