Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0162871 (abdominal aortic aneurysm)
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To analyze the relationship of the peripherin gene(PRPH, OMIM17071) mutations with high myopia,genomic DNA was collected from 180 probands with high myopia (<or=-6.0 dipoters) and 60 unrelated persons without high myopia. The coding sequences of PRPH gene in 240 subjects were analyzed using exon-by-exon PCR-heteroduplex-SSCP analysis and sequencing. Variations at codon21TTC-->TTT(Phe21Phe,4/180), nt2138C-->G(IVS3,1/180), codon277 GCC-->ACC(Ala277Thr,8/180), codon237 CCA-->TCA (Arg237stop,1/180), codon292CCG-->CCA (Ala292Ala,1/180),codon361CUG-->CUC(Leu361Leu,12/180), codon369 AAA-->AAG(Lys369Lys,12/180),nt3331G-->C(IVS7,3/180)were detected in a number of probands as indicated in the blanket. Of the 8 variations one( codon 277,G-->A,Ala277Thr) is a missense mutation identified in 8 of the 180patients and one of 60 controls; The mutation of codon361 and codon 369 were synonymous one and linkage each other; 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. 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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PMID:[Variation of the peripherin gene in Chinese with or without high myopia]. 1613 41