Detection of apoB-100 R3500Q mutation by competitive allele-specific polymerase chain reaction
The apolipoprotein B‐100 mutation R3500Q is one of the most common inherited defects causing abnormality of the lipid metabolism. We describe a one‐step, single‐tube PCR technique for detection of the mutation based on competition between allele‐specific primers. Three oligonucleotides are used: two...
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| Published in: | Journal of clinical laboratory analysis Vol. 15; no. 5; pp. 256 - 259 |
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| Abstract | The apolipoprotein B‐100 mutation R3500Q is one of the most common inherited defects causing abnormality of the lipid metabolism. We describe a one‐step, single‐tube PCR technique for detection of the mutation based on competition between allele‐specific primers. Three oligonucleotides are used: two allele‐specific primers differing in their 3′ nucleotide (for the wild‐type and the mutant allele) together with a common primer, resulting in simultaneous amplification of both alleles. This provided internal control of successful amplification and is expected to result in increased specificity. The allele‐specific primers differ also in length, allowing us to distinguish both alleles by their size in a single electrophoretic run. For optimization of the protocol, DNAs genotyped before by oligonucleotide ligation assay were used. The individual genotypes obtained by CAS‐PCR coincided fully with the ones from a referent OLA test: seven heterozygous individuals were found, 4 of them among 150 unrelated hypercholesterolemic individuals studied and other three in the pedigrees of heterozygous carriers. On the overall 160 genotypes were determined, neither false‐positive (0 out of 153 non‐carriers) nor false‐negative (0 out of 7 carriers) results were obtained. No homozygous mutant genotypes were identified in this sample. J. Clin. Lab. Anal. 15:256–259, 2001. © 2001 Wiley‐Liss, Inc. |
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| AbstractList | The apolipoprotein B‐100 mutation R3500Q is one of the most common inherited defects causing abnormality of the lipid metabolism. We describe a one‐step, single‐tube PCR technique for detection of the mutation based on competition between allele‐specific primers. Three oligonucleotides are used: two allele‐specific primers differing in their 3′ nucleotide (for the wild‐type and the mutant allele) together with a common primer, resulting in simultaneous amplification of both alleles. This provided internal control of successful amplification and is expected to result in increased specificity. The allele‐specific primers differ also in length, allowing us to distinguish both alleles by their size in a single electrophoretic run. For optimization of the protocol, DNAs genotyped before by oligonucleotide ligation assay were used. The individual genotypes obtained by CAS‐PCR coincided fully with the ones from a referent OLA test: seven heterozygous individuals were found, 4 of them among 150 unrelated hypercholesterolemic individuals studied and other three in the pedigrees of heterozygous carriers. On the overall 160 genotypes were determined, neither false‐positive (0 out of 153 non‐carriers) nor false‐negative (0 out of 7 carriers) results were obtained. No homozygous mutant genotypes were identified in this sample. J. Clin. Lab. Anal. 15:256–259, 2001. © 2001 Wiley‐Liss, Inc. The apolipoprotein B-100 mutation R3500Q is one of the most common inherited defects causing abnormality of the lipid metabolism. We describe a one-step, single-tube PCR technique for detection of the mutation based on competition between allele-specific primers. Three oligonucleotides are used: two allele-specific primers differing in their 3' nucleotide (for the wild-type and the mutant allele) together with a common primer, resulting in simultaneous amplification of both alleles. This provided internal control of successful amplification and is expected to result in increased specificity. The allele-specific primers differ also in length, allowing us to distinguish both alleles by their size in a single electrophoretic run. For optimization of the protocol, DNAs genotyped before by oligonucleotide ligation assay were used. The individual genotypes obtained by CAS-PCR coincided fully with the ones from a referent OLA test: seven heterozygous individuals were found, 4 of them among 150 unrelated hypercholesterolemic individuals studied and other three in the pedigrees of heterozygous carriers. On the overall 160 genotypes were determined, neither false-positive (0 out of 153 non-carriers) nor false-negative (0 out of 7 carriers) results were obtained. No homozygous mutant genotypes were identified in this sample. |
| Author | Karaulanov, Emil E. Kirov, Steven A. Ganev, Varban S. Horvath, Anelia D. |
| AuthorAffiliation | 2 Institute of International Health, Michigan State University, East Lansing, Michigan 1 Department of Chemistry and Biochemistry, Medical University, Sofia, Bulgaria |
| AuthorAffiliation_xml | – name: 1 Department of Chemistry and Biochemistry, Medical University, Sofia, Bulgaria – name: 2 Institute of International Health, Michigan State University, East Lansing, Michigan |
| Author_xml | – sequence: 1 givenname: Anelia D. surname: Horvath fullname: Horvath, Anelia D. organization: Department of Chemistry and Biochemistry, Medical University, Sofia, Bulgaria – sequence: 2 givenname: Steven A. surname: Kirov fullname: Kirov, Steven A. organization: Department of Chemistry and Biochemistry, Medical University, Sofia, Bulgaria – sequence: 3 givenname: Emil E. surname: Karaulanov fullname: Karaulanov, Emil E. organization: Department of Chemistry and Biochemistry, Medical University, Sofia, Bulgaria – sequence: 4 givenname: Varban S. surname: Ganev fullname: Ganev, Varban S. email: ganev@medfac.acad.bg organization: Department of Chemistry and Biochemistry, Medical University, Sofia, Bulgaria |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/11574954$$D View this record in MEDLINE/PubMed |
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| Cites_doi | 10.1093/nar/18.4.999 10.2144/96214bm04 10.1093/nar/16.3.1215 10.1016/S0022-2275(20)41985-6 10.1073/pnas.86.2.587 10.1016/0021-9150(93)90171-P 10.1016/0021-9150(92)90056-M 10.1093/nar/20.17.4567 10.1182/blood-2006-07-029090 10.1016/0003-2697(92)90133-R 10.1016/0021-9150(90)90038-K 10.1002/humu.1380040308 10.1038/nbt1096-1279 10.1093/clinchem/41.3.419 10.1006/mcpr.1994.1072 10.1093/clinchem/37.11.1983 10.1002/humu.1380060209 |
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| References_xml | – volume: 32 start-page: 1229 year: 1991 end-page: 1233 article-title: Detection of the apoB‐3500 mutation (glutamine for arginine) by gene amplification and cleavage with I publication-title: J Lipid Res – volume: 37 start-page: 1983 year: 1991 end-page: 1987 article-title: Rapid diagnosis of familial defective apolipoprotein B‐100 by Amplification Refractory Mutation System publication-title: Clin Chem – volume: 82 start-page: 177 year: 1990 end-page: 183 article-title: Absence of familial defective apolipoprotein B‐100 in Finnish patients with elevated serum cholesterol publication-title: Atherosclerosis – volume: 14 start-page: 1279 year: 1996 end-page: 1282 article-title: Oligonucleotide ligation assay (OLA) for the diagnosis of familial hypercholesterolemia publication-title: Nat Biotechnol – volume: 48 start-page: 137 year: 1991 end-page: 144 article-title: Analysis of the VNTR locus DIS80 by the PCR followed by high‐resolution PAGE publication-title: Am J Hum Genet – volume: 96 start-page: 91 year: 1992 end-page: 107 article-title: Familial defective apolipoprotein B‐100: a single mutation that causes hypercholesterolemia and premature coronary artery disease publication-title: Atherosclerosis – volume: 18 start-page: 999 year: 1990 end-page: 1005 article-title: Effects of primer‐template mismatches on the polymerase chain reaction: human immunodeficiency virus type 1 model studies publication-title: Nucleic Acids Res – volume: 8 start-page: 513 year: 1994 end-page: 518 article-title: Detection of two point mutations causing familial defective apolipoprotein B‐100 by heteroduplex analysis publication-title: Mol Cell Probes – volume: 16 start-page: 1215 year: 1988 article-title: A simple salting out procedure for extracting DNA from human nucleated cells publication-title: Nucleic Acids Res – volume: 104 start-page: 1 year: 1993 end-page: 18 article-title: Familial defective apolipoprotein B‐100: a review, including some comparisons with familial hypercholesterolaemia publication-title: Atherosclerosis – volume: 204 start-page: 22 year: 1992 end-page: 25 article-title: Allele‐specific and asymmetric polymerase chain reaction amplification in combination: a one‐step polymerase chain reaction protocol for rapid diagnosis of familial defective apolipoprotein B100 publication-title: Anal Biochem – volume: 86 start-page: 587 year: 1989 end-page: 591 article-title: Association between a specific apolipoprotein B mutation and FDB‐100 publication-title: Proc Natl Acad Sci U S A – volume: 41 start-page: 419 year: 1995 end-page: 423 article-title: Mutation screening of the codon 3500 region of the apolipoprotein B gene by denaturing gradient‐gel electrophoresis publication-title: Clin Chem – volume: 4 start-page: 217 year: 1994 end-page: 223 article-title: Screening for mutations in the exon 26 of the apolipoprotein B gene in hypercholesterolemic Finnish families by the single‐strand conformation polymorphism method publication-title: Hum Mutat – volume: 20 start-page: 4567 year: 1992 end-page: 4573 article-title: Extension of base mispairs by Taq DNA polymerase: Implications for single nucleotide discrimination in PCR publication-title: Nucleic Acids Res – volume: 6 start-page: 163 year: 1995 end-page: 169 article-title: Allele‐specific competitive blocker PCR: a one‐step method with applicability to pool screening publication-title: Hum Mutat – volume: 21 start-page: 586 year: 1996 end-page: 590 article-title: Addition of a competitive primer can dramatically improve the specificity of PCR amplification of specific alleles publication-title: BioTechniques – ident: e_1_2_1_12_2 doi: 10.1093/nar/18.4.999 – volume: 21 start-page: 586 year: 1996 ident: e_1_2_1_14_2 article-title: Addition of a competitive primer can dramatically improve the specificity of PCR amplification of specific alleles publication-title: BioTechniques doi: 10.2144/96214bm04 contributor: fullname: Zhu KY – ident: e_1_2_1_15_2 doi: 10.1093/nar/16.3.1215 – volume: 32 start-page: 1229 year: 1991 ident: e_1_2_1_11_2 article-title: Detection of the apoB‐3500 mutation (glutamine for arginine) by gene amplification and cleavage with MspI publication-title: J Lipid Res doi: 10.1016/S0022-2275(20)41985-6 contributor: fullname: Hansen PS – ident: e_1_2_1_2_2 doi: 10.1073/pnas.86.2.587 – ident: e_1_2_1_4_2 doi: 10.1016/0021-9150(93)90171-P – ident: e_1_2_1_3_2 doi: 10.1016/0021-9150(92)90056-M – ident: e_1_2_1_13_2 doi: 10.1093/nar/20.17.4567 – ident: e_1_2_1_16_2 doi: 10.1182/blood-2006-07-029090 – ident: e_1_2_1_17_2 doi: 10.1016/0003-2697(92)90133-R – ident: e_1_2_1_8_2 doi: 10.1016/0021-9150(90)90038-K – ident: e_1_2_1_5_2 doi: 10.1002/humu.1380040308 – ident: e_1_2_1_9_2 doi: 10.1038/nbt1096-1279 – volume: 41 start-page: 419 year: 1995 ident: e_1_2_1_7_2 article-title: Mutation screening of the codon 3500 region of the apolipoprotein B gene by denaturing gradient‐gel electrophoresis publication-title: Clin Chem doi: 10.1093/clinchem/41.3.419 contributor: fullname: Nissen H – ident: e_1_2_1_6_2 doi: 10.1006/mcpr.1994.1072 – ident: e_1_2_1_10_2 doi: 10.1093/clinchem/37.11.1983 – ident: e_1_2_1_18_2 doi: 10.1002/humu.1380060209 |
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| Snippet | The apolipoprotein B‐100 mutation R3500Q is one of the most common inherited defects causing abnormality of the lipid metabolism. We describe a one‐step,... The apolipoprotein B-100 mutation R3500Q is one of the most common inherited defects causing abnormality of the lipid metabolism. We describe a one-step,... |
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| SubjectTerms | Alleles Amino Acid Substitution apoB-100 R3500Q Apolipoprotein B-100 Apolipoproteins B - genetics Arginine - genetics competitive allele-specific PCR DNA Mutational Analysis - methods Glutamine - genetics Humans Metabolic Diseases - genetics Original Polymerase Chain Reaction - methods primer competition |
| Title | Detection of apoB-100 R3500Q mutation by competitive allele-specific polymerase chain reaction |
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