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Identification of four novel mutations of the low-density lipoprotein receptor gene in Korean patients with familial hypercholesterolemia.

Abstract：

:To obtain insight into the genetic variation of the low-density lipoprotein (LDL) receptor gene in Korean patients with familial hypercholesterolemia (FH), we used single-strand conformation polymorphism to screen all 18 exons and a promotor of the LDL receptor gene in 20 unrelated Korean FH patients. Four novel point mutations were detected in 5 FH patients and were characterized by sequence analysis. Of them, one is a nonsense mutation, a Glu-->Stop (CAG-->TAG) at codon 161, and results in a large deletion. The other three, which were a Ala-->Glu (GCG-->GAG) mutation at signal peptide, Cys-->Tyr (TGC-->TAC) at codon 210, and Pro-->Leu (CTG-->CCG) at codon 584, were novel missense mutations, which modified the highly conserved region of the LDL receptor gene. All these mutations were absent in normolipidemic controls and were associated in heterozygote carriers with clinical signs of FH. Identification of these novel mutations provides another example of the molecular heterogeneity of the LDL receptor gene mutations causing FH.

journal_name

Clin Genet

journal_title

Clinical genetics

authors

Shin JA,Kim SH,Kim UK,Chae JJ,Choe SJ,Namkoong Y,Kim HS,Park YB,Lee CC

doi

10.1034/j.1399-0004.2000.570309.x

subject

Has Abstract

pub_date

2000-03-01 00:00:00

pages

225-9

issue

3

eissn

0009-9163

issn

1399-0004

journal_volume

57

pub_type

杂志文章

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