[The] identification of Pompe disease mutations in archival tissues and development of a rapid molecular-based test

Pompe disease [glycogen storage disease type II] is a rare autosomal recessive lysosomal storage disease that is caused by acid alpha-glucosidase deficiency. Early enzyme replacement therapy can benefit infants with the disease but the diagnosis is complicated by the rarity of the disease and the heterogeneity of the clinical manifestations. In this study, DNA extracted from archival postmortem formalin-fixed paraffin-embedded tissues was used to identify Pompe disease mutations in Oman and develop a rapid molecular-based test. Intronic primers were designed to amplify short fragments [193-454 base pairs [bp]] from coding exons [2-20] and screen for mutations using direct sequencing [DS]. Two mutations known to cause severe disease were identified in two samples. One was a coding mutation, c.2560C>T [p.Arg854X], and the second was found at a splice acceptor site, c.1327-2A>G. Polymerase chain reaction- and restriction fragment length polymorphism-based tests were designed for the rapid genotyping of the identified mutations. These tests can facilitate prenatal diagnosis and help in identifying carriers in families with the identified mutations

Fc receptor gamma subunit polymorphisms and systemic lupus erythematosus

To investigate the possible association between Fc receptor [FcR] gamma polymorphisms and systemic lupus erythematosus [SLE]. We have investigated the full FcR gamma gene for polymorphisms using polymerase chain reaction [PCR]-single strand conformational polymorphism and DNA sequencing. The polymorphisms identified were genotype using PCR-restriction fragment length polymorphism. Systemic lupus erythematosus cases and controls were available from 3 ethnic groups: Turkish, Spanish and Caucasian. The study was conducted in the year 2001 at the Arthritis Research Campaign, Epidemiology Unit, Manchester University Medical School, Manchester, United Kingdom. Five single nucleotide polymorphisms were identified, 2 in the promoter, one in intron 4 and, 2 in the 3 UTR. Four of the 5 single nucleotide polymorphisms [SNPs] were relatively common and investigated in the 3 populations. Allele and genotype frequencies of all 4 investigated SNPs were not statistically different between cases and controls. Fc receptor gamma gene does not appear to contribute to SLE susceptibility. The identified polymorphisms may be useful in investigating other diseases where receptors containing the FcR gamma subunit contribute to the pathology