Genetic Locus for Infantile Cataract Identified
Author Information
Author(s): Zhang Shirong, Liu Mugen, Dong Jia Mei, Yin Ke, Wang Pengyun, Bu Juan, Li Jing, Hao Yan Sheng, Hao Ping, Wang Qing Kenneth, Wang Lejin
Primary Institution: Key Laboratory of Molecular Biophysics of Ministry of Education, College of life Science and Technology, Wuhan, P.R. China
Hypothesis
To map a gene responsible for infantile cataract in a large four-generation, non-consanguineous Chinese family.
Conclusion
A new gene for infantile cataract has been identified on chromosome 20p12.2-p11.23.
Supporting Evidence
- Genome-wide linkage analysis provided evidence for a genetic locus for infantile cataract on chromosome 20p12.2-20p11.23.
- The maximum LOD score was 5.15 for marker D20S471.
- Fine mapping defined the cataract gene within a 7.4 Mb interval between markers D20S915 and D20S912.
- No mutation was detected in potential candidate genes, BFSP1 and CHMP4B.
Takeaway
Scientists found a new gene that causes a type of cataract in a Chinese family, which could help us understand how cataracts happen.
Methodology
The study involved clinical analysis and genotyping of 22 family members using 382 microsatellite markers for linkage analysis.
Limitations
No mutations were found in the candidate genes BFSP1 and CHMP4B, which may limit understanding of the genetic basis.
Participant Demographics
The study involved a four-generation, non-consanguineous Chinese family with 17 cataract patients.
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