title: [Variations of the zinc finger protein 161 gene in Chinese with or without high myopia].
abstract: To investigate the association between variations of ZFP161 gene and high myopia, A total of 204 probands with simple high myopia(< or = -6.0 dipoters) were collected while 116 normal persons from different families without high myopia or related disease were used as controls. Genomic DNA was prepared from the peripheral leucocytes. The coding sequences of ZFP161 gene in 320 subjects were analyzed by using exon-by-exon PCR-heteroduplex-SSCP analysis. Identification of the Variations by cloning and sequencing, combinated with controls and family analysis, was used to disclose the correlation between ZFP161 gene and high myopia. A mutation of ZFP161 gene was identified as an insertion of AT before the 58th nucleotide of intron 1 (IVS1 58-59)(1/204) and a variation of ZFP161 gene was identified as a heterozygous C to A of the 168th nucleotide in exon 2 (Codon56, GCC-->GCA, Ala56Ala). Ala56Ala is a non-sense mutation identified in 5 of the 204 patients and 3 of 116 controls. No evidence shows that these variations are responsible for high myopia.
authors.affiliation: Ocular Genetics and Molecular Biology, National Ophthalmological Labs and Zhongshan Ophthalmic Center, ZhongShan University, Guangzhou 510060, China. rogasan@163.net
authors.forename: Guo-Bing
authors.initials: GB
authors.lastname: Wang
authors.forename: Qing-Jiong
authors.initials: QJ
authors.lastname: Zhang
authors.forename: Xue-Shang
authors.initials: XS
authors.lastname: Xiao
authors.forename: Jia-Zhang
authors.initials: JZ
authors.lastname: Li
authors.forename: Feng-Sheng
authors.initials: FS
authors.lastname: Zhang
authors.forename: Shi-Qiang
authors.initials: SQ
authors.lastname: Li
authors.forename: Wei
authors.initials: W
authors.lastname: Li
authors.forename: Tuo
authors.initials: T
authors.lastname: Li
authors.forename: Xiao-Yun
authors.initials: XY
authors.lastname: Jia
authors.forename: Li
authors.initials: L
authors.lastname: Guo
authors.forename: Xiang-Ming
authors.initials: XM
authors.lastname: Guo
mesh_terms: D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002681:China; D018389:Codon, Nonsense; D004247:DNA / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics*; D005091:Exons / Q000235:genetics*; D006801:Humans; D007438:Introns / Q000235:genetics; D051741:Kruppel-Like Transcription Factors; D016254:Mutagenesis, Insertional; D009154:Mutation; D009216:Myopia / Q000235:genetics* / Q000378:metabolism; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D012097:Repressor Proteins / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; D004268:DNA-Binding Proteins; D051741:Kruppel-Like Transcription Factors; D012097:Repressor Proteins; C489978:ZBTB14 protein, human; D004247:DNA