HUMAN MUTATION Mutation and Polymorphism Report #141 (2000) Online Mutation and Polymorphism Report Authors: Doroti Pirulli 1, Silvia Zezlina 1 , Laura Vatta 1, Paola Di Stefano 2 , Michele Boniotto 1, Guido Tarone 2, Tiziana Mongini 3, Isabella Ugo 3, Laura Palmucci 3, Antonio Amoroso 1, and Sergio Crovella 1 Affiliations 1 Medical Genetic Service, IRCCS Burlo Garofolo, Chair of Genetics, University of Trieste, Italy; 2 Department of Genetics, Biology and Biochemistry, University of Turin, Italy; 3 Department of Neuroscience, University of Turin, Italy Corresponding Author Address and E-mail: Sergio Crovella, Chair of Genetics, University of Trieste, Medical Genetic Service, IRCCS Burlo Garofolo,Via dell'Istria 65/1,34137 Trieste, Italy; E-mail:
[email protected] Title : A new polymorphism, g119A>G, in the integrin alpha 7 (ITGA7) gene integrin; ITGA7; PCR; myopathy Keywords: Species: Homo sapiens Change is: Polymorphism Gene/Locus Name: integrin, alpha 7 Symbol: ITGA7 Genbank accession number: AJ228850 exon 15 OMIM accession number: 600536 Locus specific database: Chromosomal location: 12q13 Inheritance: Unknown Mutation / polymorphism name Nucleotide change–Systematic name: g119A>G Amino acid change–Trivial name: H651R Mutation / polymorphism type: Missense Polymorphism frequency: 44/56 G/A Detection method: RFLP-PCR, Direct sequencing Detection conditions: RT-PCR Primers F: 5'-TCAAGAGCTTCGGCTACTCC-3' R: 5'-AGTCAGGAAGCATGACCAGG-3' Genomic PCR-Primers F: 5'-GCCCCCTGCCTTGCC-3' R: 5'-AGGGCTTTCTCTCAATCCTTGA-3' RT-PCR conditions RT-PCR was performed on total mRNA of 3 unclassified myopathy patients with the RNA-PCR Core Kit (PE Biosystems, Foster City, CA) HUMAN MUTATION Mutation and Polymorphism Report #141 (2000) Online using the reverse primer as antisense.