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Updated: Jun 21, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
SOD1 haplotypes in familial keratoconus
Nitin Udar1, Shari R Atilano, Kent Small
1Department of Ophthalmology, The Eye Institute, University of California Irvine, Orange, CA, USA.
Two families with keratoconus do not share a common haplotype, suggesting the SOD1 gene deletion is unique to each family. This finding supports the specific link between the SOD1 gene mutation and keratoconus.
Area of Science:
- Genetics
- Ophthalmology
Background:
- Autosomal-dominant keratoconus is linked to a 7-base deletion in the SOD1 gene.
- Previous studies identified this deletion in two distinct families (A and H).
Purpose of the Study:
- To determine if families A and H share a common haplotype.
- To identify novel microsatellite markers near the SOD1 gene to assess familial relationships.
Main Methods:
- Genomic DNA was extracted and amplified using polymerase chain reaction.
- New polymorphic microsatellite markers were developed and utilized for genotyping.
- Haplotype analysis was performed on available family members using seven markers.
Main Results:
- Five novel microsatellite markers were identified.
- Family A exhibited a distinct disease haplotype based on segregation data.
- Family H shared only three disease-associated alleles with Family A.
Conclusions:
- The two families do not share a common haplotype, indicating they are not closely related.
- This supports the conclusion that the 7-base deletion in the SOD1 gene is a unique mutation associated with keratoconus in each family.
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