Literature DB >> 9199569

A new locus for dominant "zonular pulverulent" cataract, on chromosome 13.

D Mackay1, A Ionides, V Berry, A Moore, S Bhattacharya, A Shiels.   

Abstract

Inherited cataract is a clinically and genetically heterogeneous disease that most often presents as a congenital autosomal dominant trait. Here we report the linkage of a new locus for dominant "zonular pulverulent" cataract (CZP) to chromosome 13. To map the CZP locus we performed molecular-genetic linkage analysis using microsatellite markers in a five-generation English pedigree. After exclusion of eight known loci and several candidate genes for autosomal dominant cataract, we obtained significantly positive LOD scores (Z) for markers D13S175 (maximum Z [Zmax] = 4.06; maximum recombination frequency [theta max] = 0) and D13S1236 (Zmax = 5.75, theta max = 0). Multipoint analysis gave Zmax = 6.62 (theta max = 0) at marker D13S175. Haplotype data indicated that CZP probably lies in the centromeric region of chromosome 13, provocatively close to the gene for lens connexin46.

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Year:  1997        PMID： 9199569      PMCID： PMC1716126          DOI： 10.1086/515468

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  30 in total

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Journal:  Acta Ophthalmol (Copenh)       Date:  1989-04

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Authors:  D L Paul; L Ebihara; L J Takemoto; K I Swenson; D A Goodenough
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  13 in total

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Authors:  D Mackay; A Ionides; Z Kibar; G Rouleau; V Berry; A Moore; A Shiels; S Bhattacharya
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Review 2.  Gap junctions in inherited human disease.

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7.  A novel locus of coralliform cataract mapped to chromosome 2p24-pter.

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8.  A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q.

Authors:  A Shiels; D Mackay; A Ionides; V Berry; A Moore; S Bhattacharya
Journal:  Am J Hum Genet       Date:  1998-03       Impact factor: 11.025

9.  Modulation of Cx46 hemichannels by nitric oxide.

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Review 10.  Congenital cataracts and their molecular genetics.

Authors:  J Fielding Hejtmancik
Journal:  Semin Cell Dev Biol       Date:  2007-10-10       Impact factor: 7.727
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