PubMed:8568528 JSONTXT

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":298,"end":311},"obj":"gene:7276"},{"id":"T1","span":{"begin":381,"end":384},"obj":"disease:C0032580"},{"id":"T2","span":{"begin":313,"end":316},"obj":"gene:7276"},{"id":"T3","span":{"begin":381,"end":384},"obj":"disease:C0032580"},{"id":"T4","span":{"begin":356,"end":359},"obj":"gene:7276"},{"id":"T5","span":{"begin":381,"end":384},"obj":"disease:C0032580"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"},{"id":"R2","pred":"associated_with","subj":"T2","obj":"T3"},{"id":"R3","pred":"associated_with","subj":"T4","obj":"T5"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"Haplotype analysis of French, British and other European patients with familial amyloid polyneuropathy (met 30 and tyr 77).\nFamilial amyloid polyneuropathy (FAP) is an autosomal dominant disorder originally and most frequently described in Portugal. The usual constituent amyloid fibril protein is transthyretin (TTR) and the most frequent mutation in the TTR gene associated with FAP (including all Portuguese cases) is that at position 30 (met 30). Three different TTR haplotypes have been described in association with the met 30 mutation in European patients. We studied the haplotypes of 27 families (24 French, 2 British and 1 Greek) with FAP met 30 by analysing three polymorphisms in introns of the TTR gene. We also studied 6 families (2 British, 3 French and 1 Spanish) with FAP tyr 77. There were two main haplotypes in French patients with FAP met 30, one most commonly seen in the French families of Portuguese descent which was the same haplotype as previously described in Portuguese patients (haplotype I) and another haplotype (III) detected in most informative French families not of Portuguese origin. The age of onset of symptoms was consistently later in French than in Portuguese patients and in patients with haplotype III as the disease-associated haplotype rather than haplotype I. British and French patients with the tyr 77 mutation had different haplotypes. The most likely explanation of these findings is multiple founders of both mutations."}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"8568528-2#48#61#gene7276","span":{"begin":298,"end":311},"obj":"gene7276"},{"id":"8568528-2#63#66#gene7276","span":{"begin":313,"end":316},"obj":"gene7276"},{"id":"8568528-2#106#109#gene7276","span":{"begin":356,"end":359},"obj":"gene7276"},{"id":"8568528-2#22#29#diseaseC0002726","span":{"begin":272,"end":279},"obj":"diseaseC0002726"}],"relations":[{"id":"48#61#gene727622#29#diseaseC0002726","pred":"associated_with","subj":"8568528-2#48#61#gene7276","obj":"8568528-2#22#29#diseaseC0002726"},{"id":"63#66#gene727622#29#diseaseC0002726","pred":"associated_with","subj":"8568528-2#63#66#gene7276","obj":"8568528-2#22#29#diseaseC0002726"},{"id":"106#109#gene727622#29#diseaseC0002726","pred":"associated_with","subj":"8568528-2#106#109#gene7276","obj":"8568528-2#22#29#diseaseC0002726"}],"text":"Haplotype analysis of French, British and other European patients with familial amyloid polyneuropathy (met 30 and tyr 77).\nFamilial amyloid polyneuropathy (FAP) is an autosomal dominant disorder originally and most frequently described in Portugal. The usual constituent amyloid fibril protein is transthyretin (TTR) and the most frequent mutation in the TTR gene associated with FAP (including all Portuguese cases) is that at position 30 (met 30). Three different TTR haplotypes have been described in association with the met 30 mutation in European patients. We studied the haplotypes of 27 families (24 French, 2 British and 1 Greek) with FAP met 30 by analysing three polymorphisms in introns of the TTR gene. We also studied 6 families (2 British, 3 French and 1 Spanish) with FAP tyr 77. There were two main haplotypes in French patients with FAP met 30, one most commonly seen in the French families of Portuguese descent which was the same haplotype as previously described in Portuguese patients (haplotype I) and another haplotype (III) detected in most informative French families not of Portuguese origin. The age of onset of symptoms was consistently later in French than in Portuguese patients and in patients with haplotype III as the disease-associated haplotype rather than haplotype I. British and French patients with the tyr 77 mutation had different haplotypes. The most likely explanation of these findings is multiple founders of both mutations."}