Abstract

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).

摘要

这项研究基于遗传学研究了特应性行军。这项研究检测到了丝聚蛋白基因（FLG基因）中的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性疾病的患者中，在FLG基因的外显子3中检测到了错义，沉默，无义，移码和非编码突变。在所有成人哮喘和变应性鼻炎患者中，在c.8343 G> C（p。Asp2781Glu）处检测到错义突变。然而，在所有儿童期哮喘和混合性特应性患者中均检测到c.8360 C> T / A（p。Arg2787 His / Leu）突变。在特应性皮炎和支气管哮喘患者中，在c.12365处检测到非编码突变。此外，哮喘和混合性特应性患者的DNA测序显示c.6073 C> T（p。Gly2025Glu）的错义突变和c.6073 C> T的沉默突变。8341 G> A（第