Genetic analysis of Indian subjects with clinical features of possible type IIa hypercholesterolemia
| Autor: | K. G. Nair, Tester F. Ashavaid, Altaf A. Kondkar |
|---|---|
| Rok vydání: | 2007 |
| Předmět: |
Adult
Male Microbiology (medical) Apolipoprotein E Apolipoprotein B Lipoproteins Clinical Biochemistry India Hyperlipoproteinemia Type II chemistry.chemical_compound Apolipoproteins E Genotype Humans Immunology and Allergy Allele frequency Genetics biology Cholesterol Biochemistry (medical) Public Health Environmental and Occupational Health Original Articles Hematology Middle Aged Lipids Medical Laboratory Technology Receptors LDL chemistry LDL receptor biology.protein Female lipids (amino acids peptides and proteins) Hepatic lipase Lipoprotein |
| Zdroj: | Journal of Clinical Laboratory Analysis. 21:375-381 |
| ISSN: | 1098-2825 0887-8013 |
| DOI: | 10.1002/jcla.20202 |
| Popis: | We performed genetic analysis in 55 patients with clinical features of possible type IIa hypercholesterolemia and 76 normolipemic healthy subjects for mutations and polymorphisms in the low‐density lipoprotein (LDL) receptor (LDLR), apolipoprotein B‐100 (APOB), apolipoprotein E (APOE), and hepatic lipase (LIPC) genes to elucidate the important genetic factors that can influence cholesterol levels in our population. None of the subjects showed mutations in part of exon 26 of the APOB gene, whereas two class 5 mutations were identified in exon 9 of the LDLR gene. First, an E387K mutation was observed in a Gujarati family in which both the parents were heterozygous for the mutation. Second, a L393R mutation was observed in a 38‐year‐old female. We found no correlation between LIPC −514C/T genotypes and cholesterol levels whereas the apoε4 allele frequency was significantly higher in cases and the apoE4 genotype was found to influence total cholesterol levels. J. Clin. Lab. Anal. 21:375–381, 2007. © 2007 Wiley‐Liss, Inc. |
| Databáze: | OpenAIRE |
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