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Clinical Chemistry 52: 1021-1025, 2006. First published April 20, 2006; 10.1373/clinchem.2006.067645
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(Clinical Chemistry. 2006;52:1021-1025.)
© 2006 American Association for Clinical Chemistry, Inc.

Molecular Diagnostics and Genetics

Analysis of Sequence Variations in the LDL Receptor Gene in Spain: General Gene Screening or Search for Specific Alterations?

Sebastian Blesa1, Ana Barbara Garcia-Garcia1, Sergio Martinez-Hervas2, Maria Luisa Mansego1, Veronica Gonzalez-Albert1, Juan Francisco Ascaso2, Rafael Carmena2, Jose Tomas Real2 and Felipe Javier Chaves1,a

1 Laboratorio de Estudios Genéticos, Fundación de Investigación HCUV, Hospital Clínico Universitario de Valencia, Valencia, Spain.
2 Service of Endocrinology and Nutrition, Hospital Clínico Universitario de Valencia, University of Valencia, Valencia, Spain.

aAddress correspondence to this author at: Fundación de Investigación Hospital Clínico Universitario, Avda. Blasco Ibáñez 17, E-46010 Valencia, Spain. Fax 34-96-3862665; e-mail felipe.chaves{at}uv.es.

Background: Familial hypercholesterolemia (FH) is a frequent form of autosomal-dominant hypercholesterolemia that predisposes to premature coronary atherosclerosis. FH is caused by sequence variations in the gene coding for the LDL receptor (LDLR). This gene has a wide spectrum of sequence variations, and genetic diagnosis can be performed by 2 strategies.

Methods: Point variations and large rearrangements were screened along all the LDLR gene (promoter, exons, and flanking intron sequences).

Results: We screened a sample of 129 FH probands from the Valencian Community, Spain, and identified 54 different LDLR sequence variations. The most frequent (10% of cases) was 111insA, and 60% of the variants had a frequency as low as 1%. A previously described method for detection of known sequence variations in the Spanish population by DNA array analysis allowed the identification of only ~50% of patients with a variant LDLR gene and ~40% of the screened samples.

Conclusion: Our results indicate that the adequate procedure to identify LDLR sequence variations in outbreed populations should include screening of the entire gene.




The following articles in journals at HighWire Press have cited this article:


Home page
 Clin. Chem.Home page
D. Tejedor, S. Castillo, P. Mozas, E. Jimenez, M. Lopez, M. T. Tejedor, M. Artieda, R. Alonso, P. Mata, L. Simon, et al.
Comparison of DNA Array Platform vs DNA Sequencing as Genetic Diagnosis Tools for Familial Hypercholesterolemia.
Clin. Chem., October 1, 2006; 52(10): 1971 - 1972.
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