Mutation analysis of Gaucher disease using dot-blood samples on FTA((R)) filter paper

FTA(R) filter papers were used as an effective means of blood cell collecti on, genomic DNA processing, and delivery. Minute blood samples (<1 mu L) we re collected onto the filters via a simple lateral prick to the patient's f inger, circumventing the need for intravenous blood puncture. Collected sam ples, which are stable at room temperature for several years, were subseque ntly sent through the postal system to the diagnostic laboratory, bypassing the stringent requirements of courier delivery. Using this method, we perf ormed restriction fragment length polymorphism (RFLP) and nucleotide sequen ce analysis on prevalent mutations among Canadian and Chinese Gaucher disea se 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 alle les found among Jewish and non-Jewish Gaucher disease patients. Uniquely, a Chinese Gaucher disease patient was found to have an N370S mutation. Altho ugh the presence of the N370S mutation is regarded as common in other ethni c 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 ha s been previously seen in the Jewish population. The use of FTA(R) filter p aper facilitates access of samples to diagnostic centers, and therefore pro vides an effective means of performing population-based mutational analysis of Gaucher disease internationally. Am. J. Med. Genet. 94:417-420, 2000. ( C) 2000 Wiley-Liss, Inc.