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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
6
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pubmed:dateCreated |
2003-5-22
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pubmed:abstractText |
Steroid-resistant nephrotic syndrome (SRNS) leads to end-stage renal disease (ESRD) in childhood or young adulthood. Positional cloning for genes causing SRNS has opened the first insights into the understanding of its pathogenesis. This study reports a genome-wide search for linkage in a consanguineous Palestinian kindred with SRNS and deafness and detection of a region of homozygosity on chromosome 14q24.2. Multipoint analysis of 12 markers used for further fine mapping resulted in a LOD score Z(max) of 4.12 (theta = 0) for marker D14S1025 and a two-point LOD score of Z(max) = 3.46 (theta = 0) for marker D14S77. Lack of homozygosity defined D14S1065 and D14S273 as flanking markers to a 10.7 cM interval. The identification of the responsible gene will provide new insights into the molecular basis of nephrotic syndrome and sensorineural deafness.
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pubmed:language |
eng
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pubmed:journal |
|
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jun
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pubmed:issn |
1046-6673
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pubmed:author |
pubmed-author:BrieseSoniaS,
pubmed-author:FuchshuberArnoA,
pubmed-author:HenniesHans CHC,
pubmed-author:HildebrandtFriedhelmF,
pubmed-author:ImmAnitaA,
pubmed-author:LennertThomasT,
pubmed-author:LichtenbergerAnneA,
pubmed-author:LuckeBarbaraB,
pubmed-author:NurnbergPeterP,
pubmed-author:PaschAndreasA,
pubmed-author:RufRainer GRG,
pubmed-author:VarnholtVerenaV,
pubmed-author:WolfMatthias T FMT,
pubmed-author:ZinnChristinaC
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pubmed:issnType |
Print
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pubmed:volume |
14
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pubmed:owner |
NLM
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|
pubmed:authorsComplete |
Y
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pubmed:pagination |
1519-22
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pubmed:dateRevised |
2004-11-17
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pubmed:meshHeading |
pubmed-meshheading:12761252-Alleles,
pubmed-meshheading:12761252-Child,
pubmed-meshheading:12761252-Child, Preschool,
pubmed-meshheading:12761252-Chromosome Mapping,
pubmed-meshheading:12761252-Chromosomes, Human, Pair 14,
pubmed-meshheading:12761252-Drug Resistance,
pubmed-meshheading:12761252-Female,
pubmed-meshheading:12761252-Genetic Markers,
pubmed-meshheading:12761252-Haplotypes,
pubmed-meshheading:12761252-Hearing Loss, Sensorineural,
pubmed-meshheading:12761252-Homozygote,
pubmed-meshheading:12761252-Humans,
pubmed-meshheading:12761252-Infant,
pubmed-meshheading:12761252-Lod Score,
pubmed-meshheading:12761252-Male,
pubmed-meshheading:12761252-Nephrotic Syndrome,
pubmed-meshheading:12761252-Pedigree,
pubmed-meshheading:12761252-Steroids
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pubmed:year |
2003
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pubmed:articleTitle |
A gene locus for steroid-resistant nephrotic syndrome with deafness maps to chromosome 14q24.2.
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pubmed:affiliation |
Department of Pediatrics, University of Michigan, Ann Arbor, 48109, USA.
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pubmed:publicationType |
Journal Article
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