Simple detection of a point mutation in LDL receptor gene causing familial hypercholesterolemia in southern Italy by allele-specific polymerase chain reaction
| العنوان: | Simple detection of a point mutation in LDL receptor gene causing familial hypercholesterolemia in southern Italy by allele-specific polymerase chain reaction |
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| المؤلفون: | Sebastiano Calandra, Elisabetta Mercuri, Ida Blotta, Alfredo Cantafora, Stefano Bertolini |
| المصدر: | Journal of Lipid Research, Vol 39, Iss 5, Pp 1101-1105 (1998) Europe PubMed Central |
| بيانات النشر: | Elsevier, 1998. |
| سنة النشر: | 1998 |
| مصطلحات موضوعية: | polymerase chain reaction amplification of specific alleles, Familial hypercholesterolemia, QD415-436, Biology, Polymerase Chain Reaction, Biochemistry, law.invention, Hyperlipoproteinemia Type II, Exon, chemistry.chemical_compound, Endocrinology, law, medicine, Missense mutation, Humans, Point Mutation, Genetic Testing, Allele, Polymerase chain reaction, Alleles, Genetics, Point mutation, Cell Biology, medicine.disease, Molecular biology, Restriction site, chemistry, Italy, Receptors, LDL, allele-specific primers, Electrophoresis, Polyacrylamide Gel, DNA |
| الوصف: | Polymerase chain reaction (PCR) amplification of specific alleles allowed the rapid detection of a point mutation (missense Gly528 → Asp) in exon 11 of the low density lipoprotein receptor gene which was otherwise not detectable by exon amplification and enzymatic digestion as it does not modify the normal restriction pattern. The mutant allele, designated as FH-Palermo-1 from the origin of the first carrier family identified, gave a specific PCR product of 109 bp clearly distinct from the product of 168 bp obtained from other alleles with a nonspecific couple of primers. This method allowed us to distinguish one positive sample mixed with up to 11 parts of normal DNA. Furthermore, the specific amplification product was characterized by a Bsm I restriction site not present in nonspecific products.—Cantafora, A., I. Blotta, E. Mercuri, S. Calandra, and S. Bertolini. Simple detection of a point mutation in LDL receptor gene causing familial hypercholesterolemia in southern Italy by allele-specific polymerase chain reaction. J. Lipid Res. 1998. 39: 1101–1105. |
| اللغة: | English |
| تدمد: | 0022-2275 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::223f95f2d3a9b979e6be99626ca5a19d http://www.sciencedirect.com/science/article/pii/S0022227520338797 |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi.dedup.....223f95f2d3a9b979e6be99626ca5a19d |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 00222275 |
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