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Use of three DNA polymorphisms of the LDL receptor gene in the diagnosis of familial hypercholesterolemia by A. Daga; T. Mattioni; R. Balestreri; D. A. Coviello; G. Corte; S. Bertolini is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

What is Use of three DNA polymorphisms of the LDL receptor gene in the diagnosis of familial hypercholesterolemia about?

Familial hypercholesterolemia (FH) is an autosomal dominant metabolic disorder caused by several different mutations in the low density lipoprotein (LDL) receptor gene. This large number of different mutations, often undetectable in Southern blotting, makes it impossible directly to diagnose the disease. However, restriction fragment length polymorphisms (RFLPs) can be used to follow the inheritance of the defective gene in FH families. In the present study, we report the use of three RFLPs, detected by PvuII, ApaLI and AvalI restriction enzymes, to determine the haplotypes of normal and defective LDL receptor genes in 61 families with FH and in 128 normal individuals. Two of the nine haplotypes were significantly more often associated with the affected genes, whereas one was significantly less frequent. Although none of the associations was strong enough to allow diagnosis in individuals, it was possible, using the three RFLPs, to identify the haplotype of the affected gene in 57 families and to carry out unequivocal diagnosis in 67% of the cases. In four families, PvulI and AvaII detected an abnormal fragment co-segregating with the disease, thus increasing the percentage of diag

Who reads Use of three DNA polymorphisms of the LDL receptor gene in the diagnosis of familial hypercholesterolemia?

Author

A. Daga; T. Mattioni; R. Balestreri; D. A. Coviello; G. Corte; S. Bertolini

Publisher

Springer; Springer-Verlag; Springer Verlag; Springer Science and Business Media LLC; Society for Mining, Metallurgy and Exploration Inc. (ISSN 0340-6717)

Published

1990

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)