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The telomere of human chromosome 1p contains at least two independent autosomal dominant congenital cataract genes


McKay, JD and Patterson, B and Craig, JE and Russell-Eggitt, E and Wirth, MG and Burdon, KP and Hewitt, A and Cohn, AC and Kerdraon, Y and Mackey, DA, The telomere of human chromosome 1p contains at least two independent autosomal dominant congenital cataract genes, British Journal of Ophthalmology, 89, (7) pp. 831-834. ISSN 0007-1161 (2005) [Refereed Article]

DOI: doi:10.1136/bjo.2004.058495


Aims: Multiple genetic causes of congenital cataract have been identified, both as a component of syndromes and in families that present with isolated congenital cataract. Linkage analysis was used to map the genetic locus in a six generation Australian family presenting with total congenital cataract. Methods: Microsatellite markers located across all known autosomal dominant congenital cataract loci were genotyped in all recruited family members of the Tasmanian family. Both two point and multipoint linkage analysis were used to assess each locus under an autosomal dominant model. Results: Significant linkage was detected at the telomere of the p arm of chromosome 1, with a maximum two point LOD of 4.21 at marker D1S507, a maximum multipoint exact LOD of 5.44, and an estimated location score of 5.61 at marker D1S507. Haplotype analysis places the gene inside a critical region between D1S228 and D1S199, a distance of approximately 6 megabases. The candidate gene PAX7 residing within the critical interval was excluded by direct sequencing in affected individuals. Conclusion: This is the third report of congenital cataract linkage to 1 ptel. The critical region as defined by the shared haplotype in this family is clearly centromeric from the Volkmann cataract locus identified through study of a Danish family, indicating that two genes causing autosomal dominant congenital cataract map to the telomeric region of chromosome 1p.

Item Details

Item Type:Refereed Article
Research Division:Biomedical and Clinical Sciences
Research Group:Ophthalmology and optometry
Research Field:Ophthalmology
Objective Division:Health
Objective Group:Clinical health
Objective Field:Clinical health not elsewhere classified
UTAS Author:McKay, JD (Dr James McKay)
UTAS Author:Patterson, B (Dr Briony Patterson)
UTAS Author:Craig, JE (Mr Jamie Craig)
UTAS Author:Burdon, KP (Professor Kathryn Burdon)
UTAS Author:Hewitt, A (Professor Alex Hewitt)
UTAS Author:Mackey, DA (Professor David Mackey)
ID Code:37177
Year Published:2005
Web of Science® Times Cited:23
Deposited By:Medicine
Deposited On:2005-08-01
Last Modified:2006-05-11

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