LARGE LDLR REARRANGEMENTS IN BULGARIAN PATIENTS WITH FAMILIAL HYPERCHOLESTEROLEMIA. FREQUENCY AND TWO NOVEL MUTATIONS

被引：0

作者：

Horvath, Anelia ^{[1
]}

Kirov, Stefan ^{[1
]}

Paskaleva, Iva ^{[1
]}

Spassov, Lyubomir ^{[1
]}

Ganev, Varban ^{[1
]}

机构：

[1] St Kliment Ohridski Sofia Univ, Univ Hosp Lozenetz, Fac Med, Sofia 1407, Bulgaria

来源：

COMPTES RENDUS DE L ACADEMIE BULGARE DES SCIENCES | 2011年 / 64卷 / 01期

关键词：

familial hypercholesterolemia; LDL receptor; large rearrangements; deletion; inversion; LIPOPROTEIN RECEPTOR GENE; PROTEIN; POPULATION; LOCUS;

D O I：

暂无

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

More than 1000 different mutations in the LDL receptor gene (LDLR) result in familial hypercholesterolemia (FH). The present study adds to the landscape of molecular heterogeneity of FH in Bulgaria the frequency and molecular characteristics of large LDLR rearrangements. The study was done on genomic DNA in a group of 32 unrelated patients with severe hypercholesterolemia (plasma total cholesterol level > 8.50 mmol/l) by Southern blotting analysis. Three carriers of large LDLR rearrangements (frequency 0.09 +/- 0.04), and two novel mutations were found - a large inversion involving exons 4, 5 and 6, and a deletion about 4.0 kb of a fragment located between exons 4 and 8 of the LDLR.

引用

页码：149 / 156

页数：8

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