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[Molecular heterogeneity of familial hypercholesterolemia in the St. Petersburg population].

作者信息

Mandel'shtam M Iu, Lipovetskiĭ B M, Shvartsman A L, Gaĭtskhoki V S

出版信息

Genetika. 1995 Apr;31(4):521-7.

PMID:7607438
Abstract

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.

摘要

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引用本文的文献

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Familial Hypercholesterolemia in Russia: Three Decades of Genetic Studies.俄罗斯的家族性高胆固醇血症：三十年的遗传学研究
Front Genet. 2020 Dec 17;11:550591. doi: 10.3389/fgene.2020.550591. eCollection 2020.