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. 2000 Jan;66(1):319-26.
doi: 10.1086/302719.

A novel locus for Leber congenital amaurosis maps to chromosome 6q

S Dharmaraj, Y Li, J M Robitaille, E Silva, D Zhu, T N Mitchell, L P Maltby, A B Baffoe-Bonnie, I H Maumenee

A novel locus for Leber congenital amaurosis maps to chromosome 6q

S Dharmaraj et al. Am J Hum Genet. 2000 Jan.
No abstract available

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Figures

Figure 1
Figure 1
Pedigree of family with LCA. Blackened symbols represent affected individuals. Blackened bars indicate disease-linked haplotype. Genotype (in parentheses) is inferred. Markers are listed in order, from centromere to telomere. Critical recombination events are noted in individuals 29 and 24 at markers D6S1551 and D6S1694, respectively.
Figure 2
Figure 2
Results of multipoint LOD score analysis using the GENEHUNTER program. The centromere is located toward the left of the graph. Maximum LOD scores were obtained between markers D6S391 and D6S450.
Figure 3
Figure 3
Chromosome 6 ideogram, showing the location of candidate genes screened and retinal disease loci in the region.
See this image and copyright information in PMC

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References

Electronic-Database Information

    1. Center for Medical Genetics, Marshfield Medical Research Foundation, http://marshmed.org/genetics/
    1. Duffy LD (1995) Sib-pair program, http://www.qimr.edu.au/davidD/davidd.html
    1. Genome Database, http://www.gdb.org/ (for primer information)
    1. Genome Location Database, http://cedar.genetics.soton.ac.uk/pub/PROGRAMS/ldb (for placing markers)
    1. Online Mendelian Inheritance in Man (OMIM), http://www.ncbi.nlm.nih.gov/Omim (for LCA [MIM 204000/204100])

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