Failed PCR amplifications of MBP-STR alleles due to polymorphism in the primer annealing region

• Tipo: Artigo em Revista Científica Internacional
• Data: 1996

Autores

Gusmao, L (Autor) Outra; Amorim, A (Autor) FCUP; Prata, MJ (Autor) FCUP; Pereira, L (Autor) Outra; Lareu, MV (Autor) Outra; Carracedo, A (Autor) Outra

Revista

Título: International Journal of Legal Medicine

Vol. 108

Páginas: 313-315

ISSN: 0937-9827

Editora: Springer Nature

Indexação

ISI Web of Knowledge - 29 Citações

Scopus - 30 Citações

Classificação Científica

FOS: Ciências médicas e da saúde > Outras ciências médicas

Outras Informações

ID Authenticus: P-001-E6X

DOI: 10.1007/bf02432126

Abstract (EN): The PCR-based TR system MBP-H (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.

Idioma: Inglês

Tipo (Avaliação Docente): Científica

Nº de páginas: 3