title: Mutation analysis of Gaucher disease using dot-blood samples on FTA filter paper.
abstract: FTA((R)) filter papers were used as an effective means of blood cell collection, genomic DNA processing, and delivery. Minute blood samples (<1 microL) were collected onto the filters via a simple lateral prick to the patient's finger, circumventing the need for intravenous blood puncture. Collected samples, which are stable at room temperature for several years, were subsequently sent through the postal system to the diagnostic laboratory, bypassing the stringent requirements of courier delivery. Using this method, we performed restriction fragment length polymorphism (RFLP) and nucleotide sequence analysis on prevalent mutations among Canadian and Chinese Gaucher disease patients. Of the 12 alleles (six patients) analyzed, 42% (5/12) have the N370S mutation and 58% (7/12) the L444P mutation, the two most common alleles found among Jewish and non-Jewish Gaucher disease patients. Uniquely, a Chinese Gaucher disease patient was found to have an N370S mutation. Although the presence of the N370S mutation is regarded as common in other ethnic groups, previous to this report it had not been noted in an individual of Asian descent. PvuII polymorphism analysis showed that the N370S mutation found in the Chinese patient was linked to the Pv1.1(-) polymorphism, as has been previously seen in the Jewish population. The use of FTA((R)) filter paper facilitates access of samples to diagnostic centers, and therefore provides an effective means of performing population-based mutational analysis of Gaucher disease internationally.
authors.affiliation: Centre for Environmental Health, Department of Biology, University of Victoria, British Columbia, Canada.
authors.forename: N C
authors.initials: NC
authors.lastname: Devost
authors.forename: F Y
authors.initials: FY
authors.lastname: Choy
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000097:blood / Q000737:chemistry / Q000235:genetics*; D004252:DNA Mutational Analysis; D017809:Fatal Outcome; D005260:Female; D005374:Filtration / Q000295:instrumentation; D005776:Gaucher Disease / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D005838:Genotype; D005962:Glucosylceramidase / Q000235:genetics; D006239:Haplotypes; D006801:Humans; D008297:Male; D009154:Mutation; D017354:Point Mutation; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D004247:DNA; D005962:Glucosylceramidase