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Screening for mutations in the exon 26 of the apolipoprotein B gene in hypercholesterolemic finnish families by the single-strand conformation polymorphism method

✍ Scribed by Marja Ilmonen; Tiina Heliö; Tapani Ebeling; Kalevi Pyörälä; Matti Uusitupa; Aarno Palotie; Matti J. Tikkanen

Publisher
John Wiley and Sons
Year
1994
Tongue
English
Weight
651 KB
Volume
4
Category
Article
ISSN
1059-7794

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✦ Synopsis

To date, the only known apolipoprotein B (apo B) mutation causing hypercholesterolemia is the apo B 3500 Arg Gln or the familial defective apo B (FDB) mutation. This mutation has not been detected in the Finnish population. We have set up a systematic single-strand conformation polymorphism (SSCP) analysis-based screening method to search for other mutations in the exon 26 of the apo B gene in 21 Finnish hypercholesterolemic probands. The 7572-bp exon 26 covers half of the coding region of the gene including the DNA sequence coding for the putative lowdensity lipoprotein (LDL) receptor binding site on the apo B protein. Exon 26 was amplified as six 1190to 1435-bp fragments, each of which was further split into three smaller 213to 579-bp segments by restriction enzymes.

These digestion products were run on nondenaturing polyacrylamide gels using at least three different electrophoretic conditions and autoradiographed. All previously known genetic variants in the exon 26 were detected by the SSCP method. A C+T change at nucleotide 7064, in complete association with the XbaI site, was characterized by direct sequencing. This variant did not affect the amino acid sequence of the apo B protein. The SSCP-based procedure appears suitable for systematic screening for DNA sequence changes in large coding regions. 8 1994 Wiley-Li, h e .

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