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首页> 外文期刊>Genetic testing and molecular biomarkers >Association of S549N and IVS8-5T Splice Variants with Bronchial Asthma and Its Severity in Indian Children
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Association of S549N and IVS8-5T Splice Variants with Bronchial Asthma and Its Severity in Indian Children

机译：S549N协会和IVS8-5T拼接变体支气管哮喘和其严重性在印度孩子们

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摘要

Cystic fibrosis transmembrane conductance regulator (CFTR) is an asthma susceptibility gene. Individuals heterozygous for CFTR gene mutation may develop obstructive pulmonary disease like bronchial asthma. Aim and Objective: To find out the association of S549N and ΓVS8-5T variants of the CFTR gene with bronchial asthma and its severity and to assess the combinational effect of S549N and IVS8-5T variants on severity of disease. Materials and Methods: Included were 250 clinically diagnosed bronchial asthma cases aged 5 months to 15 years and 250 age- and sex-matched controls. All cases were further categorized into four different categories as per Global Initiative for Asthma criteria (GINA) guidelines: mild intermittent (83), mild persistent (96), moderate persistent (52), and severe persistent (19). Screening for S549N and 5T variants was done using the polymerase chain reaction-restriction fragment length polymorphism method. Result: The proportion of IVS8-5T variant was found significantly higher in cases (10.8%) as compared with controls (2.4%) (p=0.001); however, no significant difference in the proportion of S549N was observed among cases (2.0%) and controls (0.8%) (p=0.447). Individuals mutant for IVS8-5T variant had increased risk for persistent asthma (p=0.000). Discussion: We conclude that IVS8-5T variant is associated with bronchial asthma and can also increase severity of the disease.
机译：囊性纤维化跨膜电导监管机构(雌性生殖道是一个哮喘的易感性基因。突变可能出现阻塞性肺支气管哮喘等疾病。找出S549N协会和ΓVS8-5T雌性生殖道的变体基因与支气管哮喘及其严重程度和评估组合S549N和IVS8-5T变体对严重程度的影响的疾病。250例临床诊断支气管哮喘病例5月15岁和250岁,sex-matched控制。根据分为四个不同的类别全球哮喘倡议标准(吉娜)指南:轻度间歇(83),温和持久(96),温和持久(52),和严重的持久性(19)。使用聚合酶链5 t变异了reaction-restriction片段长度多态性方法。被发现明显高于在例(10.8%)与控制(2.4%)(p = 0.001);然而,没有显著差异比例的S549N观察病例(2.0%)和控制(0.8%)(p = 0.447)。突变为IVS8-5T变异的风险增加持续哮喘(p = 0.000)。得出结论,与IVS8-5T变体支气管哮喘,还可以增加严重性的疾病。

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