Document Detail

The construction of a yeast artificial chromosome (YAC) contig in the vicinity of the Usher syndrome type IIa (USH2A) gene in 1q41.
MedLine Citation:
PMID:  8661107     Owner:  NLM     Status:  MEDLINE    
The gene for Usher syndrome type II (USH2A), an autosomal recessive syndromic deafness, has been mapped to a region of 1q41 flanked proximally by D1S217 and distally by D1S439. Using sequence-tagged sites (STSs) within the region, a total of 21 yeast artificial chromosome (YAC) clones were isolated and ordered into a single contig that spans approximately 11.0 Mb. The order of microsatellite and STS markers in this region was established as D1S505-D1S425-DXS217-D1S556-D1S237-D1S4 74-EB1-EB2-KB6-AFM144XF2-KB1-K B4-D1S229-D1S490-D1S227-TGFbeta2-D1S439. Analysis of newly positioned polymorphic markers in recombinant individuals in two Usher syndrome type IIa families has enabled us to identify DXS474 and AFM144XF2 as two flanking markers for the Usher type IIa locus. The physical distance between the two markers is 1.0 Mb. This region is covered by eight YACs from the CEPH library: 945f7, 867g9, 762a6, 919h3, 794b8, 785h4, 848b9, and 841g2. A long-range physical map of the Usher type IIa critical region, using MluI, BssHII, NotI, EagI, and SacII, has been developed.
J Sumegi; J Y Wang; D K Zhen; J D Eudy; C B Talmadge; B F Li; P Berglund; M D Weston; S F Yao; M Ma-Edmonds; L Overbeck; P M Kelley; E Zabarovsky; E Uzvolgyi; E J Stanbridge; G Klein; W J Kimberling
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Publication Detail:
Type:  Journal Article; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Genomics     Volume:  35     ISSN:  0888-7543     ISO Abbreviation:  Genomics     Publication Date:  1996 Jul 
Date Detail:
Created Date:  1996-09-30     Completed Date:  1996-09-30     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  8800135     Medline TA:  Genomics     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  79-86     Citation Subset:  IM    
Department of Pathology and Microbiology, University of Nebraska Medical Center, Omaha, Nebraska, 68198, USA.
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MeSH Terms
Base Sequence
Chromosome Walking
Chromosomes, Artificial, Yeast / genetics*
Chromosomes, Human, Pair 1 / genetics*,  ultrastructure
Deafness / classification,  congenital,  genetics*
Genes, Recessive*
Genetic Heterogeneity
Image Processing, Computer-Assisted
In Situ Hybridization, Fluorescence
Molecular Sequence Data
Retinitis Pigmentosa / classification,  genetics*
Sequence Tagged Sites
Grant Support
P01DC01813-01/DC/NIDCD NIH HHS; R01CA14054-15/CA/NCI NIH HHS

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