生物信息学分析在遗传性果糖不耐受早期诊断中的作用

György Tamás, Kovács Zsolt
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摘要

摘要简介:遗传性果糖不耐症(HFI)很好地说明了早期筛查先天性代谢性疾病的重要性,在这种疾病中,由于ALDOB (9q31.1)基因突变,醛dolase B在生物体中不能正常合成,因此果糖- 1-磷酸的分解不足。早期诊断对于尽早选择适当的治疗方法至关重要。否则,体内持续摄入果糖会导致症状恶化和肝脏损伤,最终导致死亡。目的:我们的研究目的是促进遗传性果糖不耐受的筛选,从而尽早选择正确的治疗方法。为此,我们使用了生物信息学和我们制作的应用程序的帮助。方法:采用生物信息学分析方法,将染色体测序获得的患者基因与健康基因的核苷酸序列进行比较。我们创建的程序可以识别并比较患者的ALDOB基因序列与正常人的序列。在进一步的步骤中,该程序可以创建引入基因的mRNA,并由此生成被测试基因编码的蛋白质结构。结果:用c#编写的程序可以识别以FASTA格式引入的ALDOB基因,如果存在差异,可以确定这些基因可以找到的确切位置,以及在引入序列中与正常核苷酸不同的核苷酸类型。结论:生物信息学处理为HFI的早期筛查提供了一种可靠、快速的解决方案,即使在出生后第一周就可以进行必要的基因采样,从而有助于建立正确的治疗方法。这也可以减少HFI患者并发症的频率和主要为婴儿记录的死亡人数。
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The role of bioinformatic analysis in the early diagnosis of hereditary fructose intolerance
Abstract Introduction: The importance of early screening for congenital metabolic diseases is well illustrated by hereditary fructose intolerance (HFI), in which the enzyme aldolase B is not synthesized normally in the organism due to a mutation in the ALDOB (9q31.1) gene, and so the breakdown of fructose- 1-phosphate is inadequate. Early diagnosis is essential in the selection of appropriate treatment, as soon as possible. Otherwise, constant intake of fructose into the body can lead to worsening of symptoms and liver damage, which can finally lead to death. Objective: The aim of our research is to facilitate the screening of hereditary fructose intolerance, thus making possible the selection of the correct treatment as soon as possible. For this purpose, we used bioinformatics and the help of an application we made. Methods: Bioinformatic analysis is designed to facilitate the comparison of the patient’s gene obtained by chromosomal sequencing with the nucleotide sequence of the healthy gene. The program we created can recognize and compare the sequence of the patient’s ALDOB gene with the normal one. In a further step, the program can create the mRNA of the introduced gene, and from this, the structure of the protein encoded by the tested gene. Results: The program written in C# can recognize the ALDOB gene introduced in FASTA format, and in case of any differences, it determines the exact positions these can be found, and the type of nucleotides that differ from the normal ones in the introduced sequence. Conclusion: Bioinformatic processing provides a reliable and quick solution for early screening of HFI, since the necessary genetic sampling can be done even on the first week after birth, thus contributing to the establishment of correct treatment. This could also reduce the frequency of complications of patients with HFI and the number of deaths recorded mainly in infants.
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