eISSN: 1896-9151
ISSN: 1734-1922
Archives of Medical Science
Current issue Archive Special issues Subscription
SCImago Journal & Country Rank

 
2/2010
vol. 6
 
Share:
Share:
more
 
 
abstract:

Original research
Characterization of low density lipoprotein receptor (LDLR) gene mutations in Albania

Maria Diakou
,
George Miltiadous
,
Stavroula Xenophontos
,
Marios Cariolou
,
Nevila Heta
,
Irena Korita
,
Anyla Bulo
,
Etleva Refatllari
,
Eleni Bairaktari
,
Moses Elisaf

Arch Med Sci 2010; 6, 2: 198-200
Online publish date: 2010/04/30
View full text
Get citation
ENW
EndNote
BIB
JabRef, Mendeley
RIS
Papers, Reference Manager, RefWorks, Zotero
AMA
APA
Chicago
Harvard
MLA
Vancouver
 

Introduction: Familial hypercholesterolaemia (FH) is a clinical syndrome characterised by elevated serum total cholesterol (TCHOL) 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, more than 800 mutations have been reported for the LDLR gene and account for FH. The nature of LDLR gene mutations varies among different ethnicities. Until now no mutations of LDLR have been reported in the Albanian population.
Material and methods: We assessed the contribution of the LDLR gene mutations as causes of FH in an Albanian population. Fifty probands with a clinical diagnosis of FH were included. We analysed all the exons and the promoter of the LDLR gene by using restriction isotyping or direct sequencing.
Results: Twenty-one patients were heterozygous for the 1646G>A mutation (FH Genoa) in exon 11 and 9 patients were heterozygous for the 81T>C mutation in exon 2 of the LDLR gene.
Conclusions: This report describes two LDLR gene mutations accounting for FH in Albania (1646G>A, 81T>C).
keywords:

familial hypercholesterolaemia, low density lipoprotein receptor gene, Albania

Quick links
© 2021 Termedia Sp. z o.o. All rights reserved.
Developed by Bentus.
PayU - płatności internetowe