New mutations in low-density lipoprotein receptor gene in familial hypercholesterolemia patients from Petrozavodsk

被引：0

作者：

T. Yu. Komarova

A. S. Golovina

N. A. Grudinina

F. M. Zakharova

V. A. Korneva

B. M. Lipovetsky

M. P. Serebrenitskaya

V. O. Konstantinov

V. B. Vasilyev

M. Yu. Mandelshtam

机构：

[1] North-Western Branch of Russian Academy of Medical Sciences,Research Institute of Experimental Medicine

[2] Petrozavodsk State University,Department of Faculty of Therapy

[3] Russian Academy of Sciences,Institute of Human Brain

[4] Mechnikov St. Petersburg State Medical Academy,Department of Biochemistry

[5] St. Petersburg State University,undefined

来源：

Russian Journal of Genetics | 2013年 / 49卷

关键词：

Familial Hypercholesterolemia; Familial Hypercholesterolemia; Single Strand Conformation Polymorphism Analysis; Familial Hypercholesterolemia Patient; Single Nucleotide Deletion;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

Using an automated fluorescent single-strand conformation polymorphism (SSCP) analysis of the entire coding region, promoter zone, and exon-intron junctions of the low-density lipoprotein (LDL) receptor gene, we examined 80 DNA samples of patients with familial hypercholesterolemia (FH) from Petrozavodsk. We revealed mutations that might cause FH in five probands, including FH-North Karelia (c.925-931del7) mutation and four previously unknown mutations. These novel mutations included a transversion c.618T>G (p.S206R), one nucleotide insertion c.195_196insT (p.FsV66:D129X), a complex gene rearrangement c.192del10/ins8 (p.FsS65:D129X), and a single nucleotide deletion c.2191delG (p.FsV731:V736X). Three out of four novel mutations produce an open reading frame shift and the premature termination of translation. An analysis of the cDNA sequence of the LDL receptor showed that this might result in the formation of a transmembrane-domain-deficient receptor that is unable to bind and internalize the ligand. Our results suggest the absence of a strong founder effect associated with FH in the Petrozavodsk population.

引用

页码：673 / 676

页数：3

共 65 条

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