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J Li, QJ Zhang, R Fu, JZ Li, FS ZhangX Y Jia L Guo X M Guo, SQ Li, W Li, T Li, XS Xiao; Variation of the Peripherin Gene in Chinese With or Without High Myopia . Invest. Ophthalmol. Vis. Sci. 2002;43(13):822.
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© ARVO (1962-2015); The Authors (2016-present)
Purpose: To analysis the relationship of the peripherin (PRPH, OMIM17071) mutations with high myopia. Methods: Genomic DNA was collected from 180 probands with high myopia (≤-6.0 dipoters) and 60 unrelated persons without high myopia. The coding sequences of PRPH gene in 240 subjects were analyzed by using exon-by-exon PCR-heteroduplex-SSCP analysis and sequencing. Results: Variations at codon21TTC→TTT(Phe21Phe,4/180), nt2138C→G (IVS3,1/180), codon277 GCC→ACC (Ala277Thr,8/180), codon237 CCA→TCA (Arg237stop,1/180), codon 292CCG→CCA(1/180), codon 361 AGC→AGG (12/180), codon369 GGA→GGG (12/180), nt3331G→C (IVS7,3/180) were detected in a number of probands as indicated in blanket. Of the 8 variations one( codon 277, G→A, Ala277Thr) is a missense mutation identified in 9 of the 180patients and one of 60 controls; Another one(codon237, CCA→TCA, Arg237stop) is a heterozygous nonsense mutation identified in one patient with autosomal recessive inheritance mode population but not in the 60 normal controls. The others were synonymous mutations. Conclusion: Eight nucleotide variations were found in the PRPH gene. We found no evidence that mutations in the PRPH gene are responsible for the high myopia in Chinese.
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