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首页> 外文期刊>Advancements in Life Sciences >Genotypic and computational sequence analysis of ALADIN gene causing Allgrove syndrome
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Genotypic and computational sequence analysis of ALADIN gene causing Allgrove syndrome

机译：引起Allgrove综合征的ALADIN基因的基因型和计算序列分析

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Background: Allgrove syndrome is autosomal recessive disorder, the gene involved in this syndrome is known as ALADIN located close to type 2 keratin gene cluster on chromosome 12q13 whose function is to control the nucleocytoplasmic trafficking and also affects the nuclear pore complexes. Mutation in this gene cause triple A syndrome. The aim of research was to analyze the mutational changes in ALADIN gene, formation of 3D Structure of normal and mutated protein and differentiation of normal and mutated protein. Methods: Genotyping by using tetra arm PCR and Sequence analyses of coding region of ALADIN gene was done in two families having affected children with Allgrove’s syndrome. Results: Point mutation in exon 1 and alteration in 3D structure of protein was observed by using VMD (Visual molecular dynamics) that shows truncation, absence of few amino acid and structural modification of proteins which alters in transportation ability. Conclusion: It is concluded from the study that proper structure and function of NPC (nuclear pore complex) binding protein is necessary in normal body function and if any mutation is present in ALADIN gene it can cause symptoms of rare Allgrove’s syndrome.
机译：背景：Allgrove综合征是常染色体隐性遗传疾病，该综合征涉及的基因称为ALADIN，位于12q13号染色体上的2型角蛋白基因簇附近，其功能是控制核质运输并影响核孔复合体。该基因的突变会导致三联症候群。研究的目的是分析ALADIN基因的突变变化，正常和突变蛋白的3D结构形成以及正常和突变蛋白的分化。方法：利用四臂PCR进行基因分型，并对两个患Allgrove综合征患儿的家庭进行ALADIN基因编码区序列分析。结果：通过使用VMD（视觉分子动力学）观察到外显子1的点突变和蛋白质3D结构的改变，该现象显示出截断，缺乏氨基酸和蛋白质的结构修饰，从而改变了转运能力。结论：从研究得出的结论是，正常人体功能中NPC（核孔复合体）结合蛋白的适当结构和功能是必需的，如果ALADIN基因中存在任何突变，则可能引起罕见的Allgrove综合征症状。

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