Two Novel Slavic Point Mutations in the Low-Density Lipoprotein Receptor Gene in Patients with Familial Hypercholesterolemia from St. Petersburg, Russia

Using PCR-single-strand conformation polymorphism analysis, followed by sequencing of the abnormal samples, two novel point mutations in the 5′ end of the fourth exon of the low-density lipoprotein receptor gene were found in two Russian families with familial hypercholesterolemia. These missense mu...

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Bibliographic Details
Published in:Molecular genetics and metabolism 1998-01, Vol.63 (1), p.31-34
Main Authors: Kh, Chakir, Skobeleva, Natalia A., Shevtsov, Sergei P., Konstantinov, Vladimir O., Denisenko, Alexander D., Schwartz, Eugene I.
Format: Article
Language:English
Subjects:
Adolescent
Adult
Aged
Child
familial hypercholesterolemia
FEDERACION DE RUSIA
FEDERATION DE RUSSIE
Female
HIPERLIPIDEMIA
Humans
HYPERLIPIDAEMIA
HYPERLIPIDEMIE
Hyperlipoproteinemia Type II - genetics
LIPOPROTEINAS
LIPOPROTEINE
LIPOPROTEINS
low-density lipoprotein receptor
Male
Middle Aged
MUTACION
MUTATION
PCR-SSCP analysis
Pedigree
Point Mutation
Polymerase Chain Reaction
Polymorphism, Single-Stranded Conformational
Receptors, LDL - genetics
Russia
RUSSIAN FEDERATION
Sequence Analysis, DNA
single-strand conformation polymorphism
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Description
Summary:Using PCR-single-strand conformation polymorphism analysis, followed by sequencing of the abnormal samples, two novel point mutations in the 5′ end of the fourth exon of the low-density lipoprotein receptor gene were found in two Russian families with familial hypercholesterolemia. These missense mutations consist of C127W and C139G transitions and result in a loss of one of three disulfide bonds in the fourth cysteine-rich repeat of the ligand-binding domain of the low-density lipoprotein receptor. Hypercholesterolemia segregated with the identified mutations.
ISSN:1096-7192
1096-7206
DOI:10.1006/mgme.1997.2614