PMC:2812425 / 4445-5820 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/2812425","sourcedb":"PMC","sourceid":"2812425","source_url":"https://www.ncbi.nlm.nih.gov/pmc/2812425","text":"Informed consent was obtained from all participants following genetic counseling. DNA was extracted from peripheral blood samples, from paraffin-embedded tissue sections, and from buccal smears, and RNA was extracted from cultured fibroblasts using an automated extractor according to the manufacturer's protocols (GenoM 48, Qiagen, Vienna, Austria). For linkage analysis, highly polymorphic microsatellite markers were selected from 2p21–p23.3 and from 5q13–q22 (http://www.gdb.org/). Locus order and sex-averaged inter-marker distances were taken from the Marshfield map (http://research.marshfieldclinic.org/genetics/). Marker alleles were detected by electrophoresing the PCR products on 6% polyacrylamide gels followed by silver staining. We used the Allegro program [10] to compute haplotypes as well as two-point and multipoint logarithm of the odds (LOD) scores, under the assumption of autosomal dominant inheritance with 100% penetrance, and with the disease-allele frequency set at.0001, and equal marker allele frequencies. A whole-genome analysis of copy number variation was conducted in one patient (12170, Fig. 1) using the Affymetrix Genome-Wide Human SNP 6.0 array according to the specifications of the manufacturer. Oligonucleotide primer sequences and conditions to sequence the ALK and C2orf18 genes in complementary DNA (cDNA) are available on request.","tracks":[{"project":"MyTest","denotations":[{"id":"19633868-16195711-29215964","span":{"begin":773,"end":775},"obj":"16195711"}],"namespaces":[{"prefix":"_base","uri":"https://www.uniprot.org/uniprot/testbase"},{"prefix":"UniProtKB","uri":"https://www.uniprot.org/uniprot/"},{"prefix":"uniprot","uri":"https://www.uniprot.org/uniprotkb/"}],"attributes":[{"subj":"19633868-16195711-29215964","pred":"source","obj":"MyTest"}]},{"project":"2_test","denotations":[{"id":"19633868-16195711-29215964","span":{"begin":773,"end":775},"obj":"16195711"}],"attributes":[{"subj":"19633868-16195711-29215964","pred":"source","obj":"2_test"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"MyTest","color":"#93d1ec","default":true},{"id":"2_test","color":"#ebec93"}]}]}}