Failed PCR amplifications of MBP-STR alleles due to polymorphism in the primer annealing region
| Popis souboru: | application/pdf |
|---|---|
| ISSN: | 0937-9827 |
| Přístupová URL adresa: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57ccaf71a2dd32e7615c35d599269541 https://pubmed.ncbi.nlm.nih.gov/8793639 |
| Rights: | OPEN |
| Přírůstkové číslo: | edsair.doi.dedup.....57ccaf71a2dd32e7615c35d599269541 |
| Autor: | Leonor Gusmão, Luísa Pereira, Maria Victoria Lareu, Maria João Prata, António Amorim, Angel Carracedo |
| Přispěvatelé: | Instituto de Investigação e Inovação em Saúde |
| Rok vydání: | 1996 |
| Předmět: |
Male
Paternity investigations Sequence analysis DNA Mutational Analysis Molecular Sequence Data Genetic Carrier Screening Population genetics Sequence data Locus (genetics) Paternity Biology STR Polymerase Chain Reaction Sensitivity and Specificity Pathology and Forensic Medicine MBP Humans Allele Alleles DNA Primers Repetitive Sequences Nucleic Acid Genetics Polymorphism Genetic Portugal Homozygote Gene Amplification Infant Myelin Basic Protein Null allele Molecular biology Exclusions Female Primer (molecular biology) Population Genetics |
| Zdroj: | Repositório Científico de Acesso Aberto de Portugal Repositório Científico de Acesso Aberto de Portugal (RCAAP) instacron:RCAAP |
| ISSN: | 0937-9827 |
| Popis: | The PCR-based STR system MBP-B (myelin basic protein locus B) has been reported to exhibit a high rate of mutations. Using a newly designed pair of primers we present evidence that this is due to failed amplifications caused by a polymorphism in the annealing region of the reverse primer originally designed. With the new reverse primer described here no exclusions were found (out of 59 mother/child pairs analysed) while one was detected with the old set of primers. The results obtained with both pairs of primers in a random population sample (n = 112) from North Portugal are compared. In this sample 13 individuals typed as homozygotes with the pair of primers originally described, were found to be heterozygous when the amplifications were performed with the new reverse primer. By sequence analysis, a substitution in the reverse primer binding sequence originally described was determined. This substitution is located upstream from the repetition site and consists of G-->A transition. This variation reaches polymorphic frequency and is responsible for the relatively frequent null alleles due to failed amplifications when the previously designed primers are used. This work was partially supported by JNICT (Junta Nacional de Investigacao Cientlfica e Tecnologica, BD/2849/93-ID and PBIC/C/CEN/1174/92) |
| Databáze: | OpenAIRE |
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