Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type 1

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Fältnamn	Indikatorer	Metadata
000		03119naa a2200517 4500
001		oai:DiVA.org:oru-10255
003		SwePub
008		100329s2000 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
024	7	a https://urn.kb.se/resolve?urn=urn:nbn:se:oru:diva-102552 URI
024	7	a https://doi.org/10.1086/3168892 DOI
040		a (SwePub)oru
041		a engb eng
042		9 SwePub
072	7	a ref2 swepub-contenttype
072	7	a art2 swepub-publicationtype
100	1	a Astuto, Lisa M.4 aut
245	1 0	a Genetic heterogeneity of Usher syndrome :b analysis of 151 families with Usher type 1
264	1	b Elsevier BV,c 2000
338		a print2 rdacarrier
520		a Usher syndrome type I is an autosomal recessive disorder marked by hearing loss, vestibular areflexia, and retinitis pigmentosa. Six Usher I genetic subtypes at loci USH1A-USH1F have been reported. The MYO7A gene is responsible for USH1B, the most common subtype. In our analysis, 151 families with Usher I were screened by linkage and mutation analysis. MYO7A mutations were identified in 64 families with Usher I. Of the remaining 87 families, who were negative for MYO7A mutations, 54 were informative for linkage analysis and were screened with the remaining USH1 loci markers. Results of linkage and heterogeneity analyses showed no evidence of Usher types Ia or Ie. However, one maximum LOD score was observed lying within the USH1D region. Two lesser peak LOD scores were observed outside and between the putative regions for USH1D and USH1F, on chromosome 10. A HOMOG chi(2)((1)) plot shows evidence of heterogeneity across the USH1D, USH1F, and intervening regions. These results provide conclusive evidence that the second-most-common subtype of Usher I is due to genes on chromosome 10, and they confirm the existence of one Usher I gene in the previously defined USH1D region, as well as providing evidence for a second, and possibly a third, gene in the 10p/q region.
653		a MEDICINE
653		a MEDICIN
653		a Medicine
653		a Medicin
700	1	a Weston, Michael D.4 aut
700	1	a Carney, Carol A.4 aut
700	1	a Hoover, Denise M.4 aut
700	1	a Cremers, Cor W. R. J.4 aut
700	1	a Wagenaar, Mariette4 aut
700	1	a Möller, Claes,d 1950-u Örebro universitet,Hälsoakademin4 aut0 (Swepub:oru)cmr
700	1	a Smith, Richard J. H.4 aut
700	1	a Pieke-Dahl, Sandra4 aut
700	1	a Greenberg, Jacquie4 aut
700	1	a Ramesar, Raj4 aut
700	1	a Jacobson, Samuel G.4 aut
700	1	a Ayuso, Carmen4 aut
700	1	a Heckenlively, John R.4 aut
700	1	a Tamayo, Marta4 aut
700	1	a Gorin, Michael B.4 aut
700	1	a Reardon, Willie4 aut
700	1	a Kimberling, William J.4 aut
710	2	a Örebro universitetb Hälsoakademin4 org
773	0	t American Journal of Human Geneticsd : Elsevier BVg 67:6, s. 1569-1574q 67:6<1569-1574x 0002-9297x 1537-6605
856	4	u http://www.cell.com/article/S000292970763225X/pdf
856	4 8	u https://urn.kb.se/resolve?urn=urn:nbn:se:oru:diva-10255
856	4 8	u https://doi.org/10.1086/316889

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