Clinical Chemistry
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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.




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G. P. Jarvik, J. D. Brunzell, and A. G. Motulsky
Frequent Detection of Familial Hypercholesterolemia Mutations in Familial Combined Hyperlipidemia
J. Am. Coll. Cardiol., November 4, 2008; 52(19): 1554 - 1556.
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S. Blesa, S. Vernia, A.-B. Garcia-Garcia, S. Martinez-Hervas, C. Ivorra, V. Gonzalez-Albert, J. F. Ascaso, J. C. Martin-Escudero, J. T. Real, R. Carmena, et al.
A New PCSK9 Gene Promoter Variant Affects Gene Expression and Causes Autosomal Dominant Hypercholesterolemia
J. Clin. Endocrinol. Metab., September 1, 2008; 93(9): 3577 - 3583.
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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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