Molecular heterogeneity of familial hypercholesterolemia in the St. Petersburg population

Journal Article · Sat Apr 01 00:00:00 EST 1995 · Russian Journal of Genetics

OSTI ID:75557

Mandel`shtam, M Yu; Lipovetskii, B M; Schvartsman, A L; Gaitskhoki, V S ^[1]

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1. Institute of Experimental Medicine, St. Petersburg (Russian Federation)

Inheritance of Taq I, BstE II, and Nco I restriction fragment length polymorphisms (RFLP) in three families from St. Petersburg with familial hypercholesterolemia (FH) was studied. In two of these families, polymorphic markers of the low density lipoprotein receptor (LDLR) gene cosegregated with the disease. This data confirmed FH diagnosis based on the analysis of blood plasma lipid levels. Three different RFLP haplotypes were associated with the disease, suggesting the presence of at least three point mutations in the LDLR gene in the population studied, i.e., suggesting molecular heterogeneity of FH in the St. Petersburg population. 23 refs., 6 figs., 3 tabs.

• OSTI ID: 75557
• Journal Information: Russian Journal of Genetics, Vol. 31, Issue 4; Other Information: PBD: Apr 1995; TN: Translated from Genetika; 31: No. 4, 521-527(1995)
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
RUSSIAN FEDERATION
PATIENTS
HEREDITARY DISEASES
CARDIOVASCULAR DISEASES
GENES
GENE MUTATIONS
CHOLESTEROL
RFLPS
BIOLOGICAL MARKERS
LIPOPROTEINS
PROBES