Salama Ragaa H, Rasheed Zafar, Ahmed Ahmed A, Bin Saif Ghada A, Elkholy Maha M, Abd El-Moniem Alaa E, Salem Tarek, Zedan Khaled, Al Robaee Ahmad A, Alzolibani Abdullateef A
Department of Medical Biochemistry, College of Medicine, Qassim University, Buraidah, Saudi Arabia.
Research Center, College of Medicine, Qassim University, Buraidah, Saudi Arabia.
Nucleosides Nucleotides Nucleic Acids. 2021;40(3):357-367. doi: 10.1080/15257770.2021.1880009. Epub 2021 Feb 4.
This study investigated the atopic march on the basis of genetics. This research detected 227 variants in the filaggrin gene (FLG gene). Missense, silent, non-sense, frame-shift and non-coding mutations were detected in exon 3 of the FLG gene in patients with bronchial asthma, atopic dermatitis, allergic rhinitis and mixed atopy. Missense mutation was detected at c.8343 G > C (p. Asp2781Glu) in all adult asthmatic and allergic rhinitis patients. Whereas, mutation at c.8360 C > T/A (p. Arg2787 His/Leu) was detected in all childhood asthmatic and mixed atopic patients. A non-coding mutation was detected at c.12365 in atopic dermatitis and bronchial asthma patients. Furthermore, DNA sequencing of asthmatic and mixed atopic patients showed missense mutations at c.6073 C > T (p. Gly2025Glu) and a silent mutation at c. 8341 G > A (p. Asp2781Asp).
本研究基于遗传学对特应性进程进行了调查。该研究在丝聚合蛋白基因（FLG基因）中检测到227个变异。在支气管哮喘、特应性皮炎、过敏性鼻炎和混合性特应症患者的FLG基因外显子3中检测到错义、沉默、无义、移码和非编码突变。在所有成年哮喘和过敏性鼻炎患者中检测到c.8343 G > C（p. Asp2781Glu）处的错义突变。然而，在所有儿童哮喘和混合性特应症患者中检测到c.8360 C > T/A（p. Arg2787 His/Leu）处的突变。在特应性皮炎和支气管哮喘患者中检测到c.12365处的非编码突变。此外，哮喘和混合性特应症患者的DNA测序显示c.6073 C > T（p. Gly2025Glu）处存在错义突变，c. 8341 G > A（p. Asp2781Asp）处存在沉默突变。
