日本鹌鹑白化候选突变膜相关转运蛋白(MATP)基因多态性的鉴定

Laksita Haniifah Pratiwi, R. Dewanti, M. Cahyadi
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引用次数: 0

摘要

色素沉着异常可能是由于基因突变引起的,并引发与疾病相关的色素沉着缺陷,如白化病,这可能是由膜相关转运蛋白基因(MATP)突变引起的。本研究的目的是鉴定日本鹌鹑MATP外显子3的多态性。本研究选用日本鹌鹑9只,其中褐羽鹌鹑3只,黑羽鹌鹑3只,白化鹌鹑3只。血样提取基因组脱氧核糖核酸(DNA),用聚合酶链反应(PCR)扩增MATP外显子3区域。对PCR产物进行测序和分析。共发现10个突变,其中g.4460G>A、g.4479G>A和g.4514T>C 3个突变位于外显子3内。这些突变是同义的和非同义的。本研究未发现白化病的特异性突变。总之,这些突变并不能明确地决定日本鹌鹑的白化病。
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Identification of the Membrane-Associated Transporter Protein (MATP) Gene Polymorphism as Candidate Mutation for Albinism in Japanese Quail
A pigmentation abnormality could be due to genetic mutation and trigger a disease related pigmentation deficiency such as albino which might be caused by mutation in membrane-associated transporter protein gene (MATP). The aim of this study was to identify polymorphism in the MATP exon 3 in Japanese quail. A total of nine Japanese quail consisting three brown plumage quail, three black plumage quail, and three albino quail were used in this study. Blood samples were used to extract the genomic Deoxyribonucleic acid (DNA) and used to amplify exon 3 regions of the MATP by polymerase chain reaction (PCR). The PCR products were then sequenced and analyzed. A total of 10 mutations were found, of which three mutations, g.4460G>A, g.4479G>A, and g.4514T>C, were within exon 3. These mutations were synonymous and non-synonymous. No specific mutation for albino was found in this study. In summary those mutations did not specifically determine albinism in Japanese quail.
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