PubMed:2897793 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PubMed/sourceid/2897793","sourcedb":"PubMed","sourceid":"2897793","source_url":"http://www.ncbi.nlm.nih.gov/pubmed/2897793","text":"Direct method for prenatal diagnosis and carrier detection in Duchenne/Becker muscular dystrophy using the entire dystrophin cDNA.\nDNA sequence polymorphisms (RFLPs) have been widely used as genetic markers for identification of the X chromosome that carries the mutation for Duchenne muscular dystrophy (DMD) in affected families, but serious limitations and pitfalls are associated with this approach [Darras et al., 1987]. The complementary DNA (cDNA) of the DMD gene has recently been isolated and shown to detect partial gene deletions in a large proportion of patients [Koenig et al., 1987]. Two prenatal studies are presented to illustrate how the unambiguous identification of deletion mutations by cDNA probes permits direct DNA-based diagnoses with high accuracy and in otherwise uninformative families. In a single proband family, DNA marker analysis had determined that the Xp21 chromosomal region present in the affected male was also carried by a male fetus in a subsequent pregnancy. Analysis of this family's DNA with probes covering the entire 14 kb cDNA revealed a small deletion in the affected male that was not present in the fetus nor in the mother. In the second family the fetus was a female deletion carrier identified by comparing intensities of restriction fragments. Since 1/3 of all DMD patients are thought to result from new mutations and most families have only single affected males, the cloned cDNA probes now available are likely to revolutionize DNA-based diagnostic studies in this disorder. More reliable, more rapid and less expensive than linkage studies with DNA polymorphisms, this method will be informative in the more than 50% of DMD/BMD cases that have deletion mutations.","tracks":[{"project":"sentences","denotations":[{"id":"TextSentencer_T1","span":{"begin":0,"end":130},"obj":"Sentence"},{"id":"TextSentencer_T2","span":{"begin":131,"end":425},"obj":"Sentence"},{"id":"TextSentencer_T3","span":{"begin":426,"end":597},"obj":"Sentence"},{"id":"TextSentencer_T4","span":{"begin":598,"end":813},"obj":"Sentence"},{"id":"TextSentencer_T5","span":{"begin":814,"end":998},"obj":"Sentence"},{"id":"TextSentencer_T6","span":{"begin":999,"end":1171},"obj":"Sentence"},{"id":"TextSentencer_T7","span":{"begin":1172,"end":1294},"obj":"Sentence"},{"id":"TextSentencer_T8","span":{"begin":1295,"end":1528},"obj":"Sentence"},{"id":"TextSentencer_T9","span":{"begin":1529,"end":1718},"obj":"Sentence"},{"id":"T1","span":{"begin":0,"end":130},"obj":"Sentence"},{"id":"T2","span":{"begin":131,"end":425},"obj":"Sentence"},{"id":"T3","span":{"begin":426,"end":597},"obj":"Sentence"},{"id":"T4","span":{"begin":598,"end":813},"obj":"Sentence"},{"id":"T5","span":{"begin":814,"end":998},"obj":"Sentence"},{"id":"T6","span":{"begin":999,"end":1171},"obj":"Sentence"},{"id":"T7","span":{"begin":1172,"end":1294},"obj":"Sentence"},{"id":"T8","span":{"begin":1295,"end":1528},"obj":"Sentence"},{"id":"T9","span":{"begin":1529,"end":1718},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"attributes":[{"subj":"TextSentencer_T1","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T2","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T3","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T4","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T5","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T6","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T7","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T8","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T9","pred":"source","obj":"sentences"},{"subj":"T1","pred":"source","obj":"sentences"},{"subj":"T2","pred":"source","obj":"sentences"},{"subj":"T3","pred":"source","obj":"sentences"},{"subj":"T4","pred":"source","obj":"sentences"},{"subj":"T5","pred":"source","obj":"sentences"},{"subj":"T6","pred":"source","obj":"sentences"},{"subj":"T7","pred":"source","obj":"sentences"},{"subj":"T8","pred":"source","obj":"sentences"},{"subj":"T9","pred":"source","obj":"sentences"}]},{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":114,"end":124},"obj":"gene:1756"},{"id":"T1","span":{"begin":62,"end":96},"obj":"disease:C3542021"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"attributes":[{"subj":"T0","pred":"source","obj":"DisGeNET"},{"subj":"T1","pred":"source","obj":"DisGeNET"}]},{"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":285,"end":303},"obj":"HP_0003560"}],"attributes":[{"subj":"T1","pred":"source","obj":"PubmedHPO"}]},{"project":"PubCasesHPO","denotations":[{"id":"TI1","span":{"begin":78,"end":96},"obj":"HP:0003560"},{"id":"AB1","span":{"begin":285,"end":303},"obj":"HP:0003560"}],"attributes":[{"subj":"TI1","pred":"source","obj":"PubCasesHPO"},{"subj":"AB1","pred":"source","obj":"PubCasesHPO"}]},{"project":"PubCasesORDO","denotations":[{"id":"TI1","span":{"begin":71,"end":96},"obj":"ORDO:98895"},{"id":"AB1","span":{"begin":276,"end":303},"obj":"ORDO:98896"},{"id":"AB2","span":{"begin":305,"end":308},"obj":"ORDO:98896"},{"id":"AB3","span":{"begin":462,"end":465},"obj":"ORDO:98896"},{"id":"AB4","span":{"begin":1312,"end":1315},"obj":"ORDO:98896"},{"id":"AB5","span":{"begin":1675,"end":1678},"obj":"ORDO:98896"},{"id":"AB6","span":{"begin":1679,"end":1682},"obj":"ORDO:98895"}],"namespaces":[{"prefix":"ORDO","uri":"http://www.orpha.net/ORDO/Orphanet_"}],"attributes":[{"subj":"TI1","pred":"source","obj":"PubCasesORDO"},{"subj":"AB1","pred":"source","obj":"PubCasesORDO"},{"subj":"AB2","pred":"source","obj":"PubCasesORDO"},{"subj":"AB3","pred":"source","obj":"PubCasesORDO"},{"subj":"AB4","pred":"source","obj":"PubCasesORDO"},{"subj":"AB5","pred":"source","obj":"PubCasesORDO"},{"subj":"AB6","pred":"source","obj":"PubCasesORDO"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"sentences","color":"#93d9ec","default":true},{"id":"DisGeNET","color":"#ece593"},{"id":"PubmedHPO","color":"#ca93ec"},{"id":"PubCasesHPO","color":"#93ecb0"},{"id":"PubCasesORDO","color":"#ec9693"}]}]}}