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| Establish of mutation spectrum of congenital cataracts in Chinese population |
| 1.National Research Institute for Family Planning, Beijing, 100081；2.National Centre for Human Genetic Resources；3.Graduate School of Peking Union Medical College；4.Capital of Bio Technology；5.Fujian Medical University |
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Abstract Objective: To delineate the mutation spectrum of congenital cataracts of Chinese population based on database of PubMed and CNKI. Methods: The articles related to congenital cataracts were searched from database, such as PubMed and CNKI. Then the genes, variations and information of population were extracted from the articles using the text mining method. The relationship between the genes, variations was identified by the sentencelevel concurrence. Mutation frequency in Chinese and nonChinese populations were summarized at the gene, exon and mutation levels, respectively. The differences of mutation spectrum were observed between Chinese and nonChinese. Results: Mutation spectrum of congenital cataracts in Chinese was delineated. The 169 mutations associated with congenital cataract were distributed on the 60 exons or splice sites of the 32 genes. Conclusion：It is feasible to establish the mutation database of congenital cataract in Chinese population, and it is possible to obtain the mutation spectrum through a combination of text mining and manual inspection based on database of PubMed and CNKI. The method can try to apply to compile the mutation spectrum of other monogenic disorder in Chinese population.
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