FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1522634549> ?p ?o ?g. }

• W1522634549 endingPage "28" @default.
• W1522634549 startingPage "619" @default.
• W1522634549 abstract "The DYT1 gene responsible for early-onset, idiopathic torsion dystonia (ITD) in the Ashkenazi Jewish population, as well as in one large non-Jewish family, has been mapped to chromosome 9q32-34. Using (GT)n and RFLP markers in this region, we have identified obligate recombination events in some of these Jewish families, which further delineate the area containing the DYT1 gene to a 6-cM region bounded by loci AK1 and ASS. In 52 unrelated, affected Ashkenazi Jewish individuals, we have found highly significant linkage disequilibrium between a particular extended haplotype at the ABL-ASS loci and the DYT1 gene. The 4/A12 haplotype for ABL-ASS is present on 69% of the disease-bearing chromosomes among affected Jewish individuals and on only 1% of control Jewish chromosomes (chi 2 = 91.07, P much less than .001). The allelic association between this extended haplotype and DYT1 predicts that these three genes lie within 1-2 cM of each other; on the basis of obligate recombination events, the DYT1 gene is centromeric to ASS. Furthermore, this allelic association supports the idea that a single mutation event is responsible for most hereditary cases of dystonia in the Jewish population. Of the 53 definitely affected typed, 13 appear to be sporadic, with no family history of dystonia. However, the proportion of sporadic cases which potentially carry the A12 haplotype at ASS (8/13 [62%]) is similar to the proportion of familial cases with A12 (28/40 [70%]). This suggests that many sporadic cases are hereditary, that the disease gene frequency is greater than 1/15,000, and that the penetrance is lower than 30%, as previously estimated in this population. Most affected individuals were heterozygous for the ABL-ASS haplotype, a finding supporting autosomal dominant inheritance of the DYT1 gene. The ABL-ASS extended-haplotype status will provide predictive value for carrier status in Jewish individuals. This information can be used for molecular diagnosis, evaluation of subclinical expression of the disease, and elucidation of environmental factors which may modify clinical symptoms." @default.
• W1522634549 created "2016-06-24" @default.
• W1522634549 creator A5010278316 @default.
• W1522634549 creator A5010642600 @default.
• W1522634549 creator A5015080716 @default.
• W1522634549 creator A5024118424 @default.
• W1522634549 creator A5044243605 @default.
• W1522634549 creator A5044329623 @default.
• W1522634549 creator A5055291097 @default.
• W1522634549 creator A5059573074 @default.
• W1522634549 creator A5071287875 @default.
• W1522634549 creator A5076400266 @default.
• W1522634549 creator A5085936676 @default.
• W1522634549 creator A5088972033 @default.
• W1522634549 date "1992-03-01" @default.
• W1522634549 modified "2023-09-26" @default.
• W1522634549 title "Strong allelic association between the torsion dystonia gene (DYT1) andloci on chromosome 9q34 in Ashkenazi Jews." @default.
• W1522634549 cites W1031197114 @default.
• W1522634549 cites W121074421 @default.
• W1522634549 cites W137655759 @default.
• W1522634549 cites W1513464578 @default.
• W1522634549 cites W1542836032 @default.
• W1522634549 cites W179503404 @default.
• W1522634549 cites W185818434 @default.
• W1522634549 cites W1964344173 @default.
• W1522634549 cites W1967340903 @default.
• W1522634549 cites W2009056665 @default.
• W1522634549 cites W2012597151 @default.
• W1522634549 cites W2013688832 @default.
• W1522634549 cites W2014669590 @default.
• W1522634549 cites W2018004501 @default.
• W1522634549 cites W2019892260 @default.
• W1522634549 cites W2024564432 @default.
• W1522634549 cites W2049914201 @default.
• W1522634549 cites W2053626751 @default.
• W1522634549 cites W2059142088 @default.
• W1522634549 cites W2059375646 @default.
• W1522634549 cites W2061744749 @default.
• W1522634549 cites W2063199951 @default.
• W1522634549 cites W2078078890 @default.
• W1522634549 cites W2078562810 @default.
• W1522634549 cites W2081632 @default.
• W1522634549 cites W2093237334 @default.
• W1522634549 cites W2095503863 @default.
• W1522634549 cites W2113521501 @default.
• W1522634549 cites W2125391335 @default.
• W1522634549 cites W2126069984 @default.
• W1522634549 cites W2136193641 @default.
• W1522634549 cites W2146461384 @default.
• W1522634549 cites W2146645130 @default.
• W1522634549 cites W2165082605 @default.
• W1522634549 cites W2165660291 @default.
• W1522634549 cites W2205022883 @default.
• W1522634549 cites W2332150079 @default.
• W1522634549 cites W2412576531 @default.
• W1522634549 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/1684274" @default.
• W1522634549 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/1347197" @default.
• W1522634549 hasPublicationYear "1992" @default.
• W1522634549 type Work @default.
• W1522634549 sameAs 1522634549 @default.
• W1522634549 citedByCount "47" @default.
• W1522634549 countsByYear W15226345492012 @default.
• W1522634549 countsByYear W15226345492013 @default.
• W1522634549 countsByYear W15226345492015 @default.
• W1522634549 countsByYear W15226345492017 @default.
• W1522634549 countsByYear W15226345492018 @default.
• W1522634549 countsByYear W15226345492020 @default.
• W1522634549 countsByYear W15226345492021 @default.
• W1522634549 crossrefType "journal-article" @default.
• W1522634549 hasAuthorship W1522634549A5010278316 @default.
• W1522634549 hasAuthorship W1522634549A5010642600 @default.
• W1522634549 hasAuthorship W1522634549A5015080716 @default.
• W1522634549 hasAuthorship W1522634549A5024118424 @default.
• W1522634549 hasAuthorship W1522634549A5044243605 @default.
• W1522634549 hasAuthorship W1522634549A5044329623 @default.
• W1522634549 hasAuthorship W1522634549A5055291097 @default.
• W1522634549 hasAuthorship W1522634549A5059573074 @default.
• W1522634549 hasAuthorship W1522634549A5071287875 @default.
• W1522634549 hasAuthorship W1522634549A5076400266 @default.
• W1522634549 hasAuthorship W1522634549A5085936676 @default.
• W1522634549 hasAuthorship W1522634549A5088972033 @default.
• W1522634549 hasConcept C104317684 @default.
• W1522634549 hasConcept C180754005 @default.
• W1522634549 hasConcept C197754878 @default.
• W1522634549 hasConcept C2908647359 @default.
• W1522634549 hasConcept C35605836 @default.
• W1522634549 hasConcept C54355233 @default.
• W1522634549 hasConcept C71924100 @default.
• W1522634549 hasConcept C86803240 @default.
• W1522634549 hasConcept C99454951 @default.
• W1522634549 hasConceptScore W1522634549C104317684 @default.
• W1522634549 hasConceptScore W1522634549C180754005 @default.
• W1522634549 hasConceptScore W1522634549C197754878 @default.
• W1522634549 hasConceptScore W1522634549C2908647359 @default.
• W1522634549 hasConceptScore W1522634549C35605836 @default.
• W1522634549 hasConceptScore W1522634549C54355233 @default.
• W1522634549 hasConceptScore W1522634549C71924100 @default.
• W1522634549 hasConceptScore W1522634549C86803240 @default.

• next