编码酪氨酸酶相关蛋白1的人类TYRP1基因的完整序列及多态性研究
Complete sequence and polymorphism study of the human TYRP1 gene encoding tyrosinase-related protein 1.
作者信息
Box N F, Wyeth J R, Mayne C J, O'Gorman L E, Martin N G, Sturm R A
机构信息
Centre for Molecular and Cellular Biology, University of Queensland, Brisbane, Australia.
出版信息
Mamm Genome. 1998 Jan;9(1):50-3. doi: 10.1007/s003359900678.
The complete 24,667 nucleotide sequence spanning the human TYRP1 gene has been determined from the inserts of two overlapping lambda clones. A LINE-1 repeat element is immediately adjacent to and may demarcate the immediate 5' promoter region of the gene. A search for polymorphism within the seven TYRP1 coding exons has been performed by an RNase mismatch detection procedure. Analysis of the TYRP1 gene in 100 Caucasian individuals of varying hair color has found no amino acid sequence variation nor revealed any hemizygous mutant allele in the hypopigmented phenotype of two 9p- syndrome patients.
跨越人类TYRP1基因的完整24,667个核苷酸序列已从两个重叠的λ克隆的插入片段中确定。一个LINE-1重复元件紧邻该基因的5'启动子区域，并可能划定其边界。通过核糖核酸酶错配检测程序对TYRP1基因的七个编码外显子内的多态性进行了搜索。对100名不同发色的白种人个体的TYRP1基因分析发现，在两名9p-综合征患者的色素减退表型中，没有氨基酸序列变异，也未发现任何半合子突变等位基因。
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