Genetic polymorphism of the 17th exon at porcine RYR1 locus: a new variant in a local Portuguese pig breed demonstrated by SSCP analysis

• Type: Article in International Scientific Journal
• Date: 2001

Authors

beja-pereira, a (Author) FCUP; bento, p (Author) Other; ferrand, n (Author) FCUP; brenig, b (Author) Other

Journal

Title: Journal of Animal Breeding and Genetics

Vol. 118

Pages: 271-274

ISSN: 0931-2668

Publisher: Wiley-Blackwell

Indexing

ISI Web of Knowledge - 3 Citations

Scopus - 3 Citations

Scientific classification

FOS: Agrarian Sciences > Animal and Dairy science

Other information

Authenticus ID: P-000-TQQ

DOI: 10.1046/j.1439-0388.2001.00294.x

Abstract (EN): Until 1991, malignant hyperthermia represented a major and important economic loss in modern pork production. It is a recessive autosomal disorder with variable expression that was. not known to occur in the local pig breeds from Portugal, Alentejano and Bisaro, prior to outcrossing with commercial breeds. In swine, this disorder is due to a mutation in exon 17 of the ryanodine receptor 1 (RYR1) gene, detectable through the analysis of a restriction fragment length polymorphism. We used this technique to distinguish between resistant (NN), carrier (Nn) and susceptible (nn) genotypes, with the aim of excluding carriers from the breeding programme. We further developed a rapid screening technique on the basis of SSCP (single-strand conformation polymorphism). Fifteen heterozygous (Nn) individuals were found in our sample of 48 individuals from Bisaro breed using both techniques. The absence of homozygous susceptible pigs su ts that the introduction of this allele into Bisaro breed has been recent. A genetically controlled breeding programme on the basis of our findings should help to secure the future of Bisaro pigs Of which few individuals are known to exist. To date, only one mutation was found in the 5 ' end of exon 17 of the porcine RYR1 gene. Here we present the frequencies of this mutation and describe a new mutation detected in the Alentejano breed. PCR-SSCP analysis followed by automatic sequencing allowed the detection of this rare transition (C --> T) at nucleotide 1851 of exon 17.

Language: English

Type (Professor's evaluation): Scientific