PMC:1892049 / 25389-26600 JSONTXT

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    craft-ca-core-ex-dev

    {"project":"craft-ca-core-ex-dev","denotations":[{"id":"T12697","span":{"begin":46,"end":54},"obj":"SO:0000357"},{"id":"T12698","span":{"begin":59,"end":67},"obj":"SO_EXT:sequence_deletion_entity_or_process"},{"id":"T12699","span":{"begin":105,"end":112},"obj":"SO_EXT:0000112"},{"id":"T12700","span":{"begin":196,"end":213},"obj":"SO_EXT:0000239"},{"id":"T12701","span":{"begin":215,"end":221},"obj":"SO_EXT:0000112"},{"id":"T12702","span":{"begin":222,"end":230},"obj":"SO_EXT:biological_sequence"},{"id":"T12703","span":{"begin":286,"end":292},"obj":"SO_EXT:0000112"},{"id":"T12704","span":{"begin":306,"end":315},"obj":"GO_SO_EXT:telomere_or_telomeric_region_or_telomeric_orientation"},{"id":"T12705","span":{"begin":316,"end":331},"obj":"SO_EXT:0000239"},{"id":"T12706","span":{"begin":352,"end":363},"obj":"GO_SO_EXT:centromere_or_centromeric_region_or_centromeric_orientation"},{"id":"T12707","span":{"begin":364,"end":379},"obj":"SO_EXT:0000239"},{"id":"T12708","span":{"begin":426,"end":428},"obj":"SO_EXT:0000028"},{"id":"T12709","span":{"begin":478,"end":489},"obj":"SO_EXT:genomic_DNA"},{"id":"T12710","span":{"begin":486,"end":489},"obj":"CHEBI_SO_EXT:DNA"},{"id":"T12711","span":{"begin":522,"end":533},"obj":"NCBITaxon:1"},{"id":"T12712","span":{"begin":565,"end":568},"obj":"CHEBI_EXT:37958"},{"id":"T12713","span":{"begin":631,"end":638},"obj":"_FRAGMENT"},{"id":"T12714","span":{"begin":651,"end":658},"obj":"SO_EXT:0000121"},{"id":"T12715","span":{"begin":643,"end":658},"obj":"SO_EXT:0000132"},{"id":"T12716","span":{"begin":809,"end":815},"obj":"SO_EXT:0001026"},{"id":"T12717","span":{"begin":862,"end":874},"obj":"SO_EXT:polymorphism"},{"id":"T12718","span":{"begin":925,"end":931},"obj":"SO_EXT:0001026"},{"id":"T12719","span":{"begin":957,"end":964},"obj":"SO_EXT:0001026"},{"id":"T12720","span":{"begin":965,"end":973},"obj":"SO_EXT:sequence_deletion_entity_or_process"},{"id":"T12721","span":{"begin":1019,"end":1025},"obj":"SO_EXT:0001023"},{"id":"T12722","span":{"begin":1040,"end":1046},"obj":"SO_EXT:0001023"},{"id":"T12723","span":{"begin":1164,"end":1175},"obj":"NCBITaxon:1"},{"id":"T12724","span":{"begin":1200,"end":1209},"obj":"SO_EXT:0001024"}],"relations":[{"id":"R3354","pred":"_lexicallyChainedTo","subj":"T12714","obj":"T12713"}],"text":"In an attempt to narrow the unknown intervals flanking the deletion observed in family AUS1, we designed primers for 30 PCR amplifications that would generate overlapping fragments across the two bordering regions (primer sequence and conditions available upon request). There were ten primer pairs in the telomeric flanking region and 20 pairs in the centromeric flanking region (Figure S3). On average each product was ~750 bp in size, and amplifications were performed using genomic DNA from each of the three affected individuals (family members 6, 7, and 19). Dye-terminator sequencing of each product was performed using the forward and reverse primers designed for amplification; running and analysis of each fragment was performed as described above. Amplification of a fragment from a normal diploid genome was denoted by the presence of a heterozygous polymorphism; amplification of a fragment from a region of the genome harboring a heterozygous genomic deletion was inferred when homozygosity for the major allele and the minor allele were noted among the three affected family members (i.e., this is inconsistent with Mendelian inheritance in related individuals known to share a common haplotype)."}

    craft-ca-core-dev

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    craft-sa-dev

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