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加拿大囊性纤维化患者铜绿假单胞菌定植的遗传决定因素。

Genetic determinants of Pseudomonas aeruginosa colonization in cystic fibrosis patients in Canada.

作者信息

De Braekeleer M, Allard C, Leblanc J P, Aubin G, Simard F

机构信息

Cystic Fibrosis Research Laboratory, Université du Québec à Chicoutimi, Canada.

出版信息

Eur J Clin Microbiol Infect Dis. 1998 Apr;17(4):269-71. doi: 10.1007/BF01699984.

DOI:10.1007/BF01699984
PMID:9707310
Abstract

The present study was aimed at analyzing whether the rate of colonization and the age at colonization with Pseudomonas aeruginosa was genetically determined in cystic fibrosis (CF) patients. These two variables were calculated among 127 CF patients whose genotypes were known and who were monitored at the Clinique de Fibrose Kystique in Saguenay Lac-Saint-Jean. No statistically significant differences were found in the rate or the age at colonization when the patients were grouped by genotype; however, this result could be due to the small number of patients in each genotype group. The rate of colonization was significantly lower among CF patients carrying the A455E mutation, a "mild" allele with respect to exocrine pancreatic function, than among those carrying either the deltaF508 or the 621 + IG- > T mutation, both of which are "severe" alleles. The results confirm previous reports that the rate of colonization with Pseudomonas aeruginosa is, at least in part, genetically determined.

摘要

本研究旨在分析囊性纤维化(CF)患者中铜绿假单胞菌的定植率和定植年龄是否由基因决定。在127名已知基因型且在萨格奈-圣让湖地区囊性纤维化诊所接受监测的CF患者中计算了这两个变量。当按基因型对患者进行分组时,在定植率或定植年龄方面未发现统计学上的显著差异;然而,这一结果可能是由于每个基因型组中的患者数量较少。携带A455E突变(一种在外分泌胰腺功能方面为“轻度”的等位基因)的CF患者的定植率显著低于携带ΔF508或621 + IG>T突变(这两种均为“重度”等位基因)的患者。结果证实了先前的报道,即铜绿假单胞菌的定植率至少部分由基因决定。

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本文引用的文献

1
Genotype-phenotype correlation in cystic fibrosis patients compound heterozygous for the A455E mutation.携带A455E突变的囊性纤维化复合杂合子患者的基因型-表型相关性
Hum Genet. 1997 Dec;101(2):208-11. doi: 10.1007/s004390050616.
2
Genotype-phenotype correlation in five cystic fibrosis patients homozygous for the 621 + 1G-->T mutation.五名携带621 + 1G→T突变纯合子的囊性纤维化患者的基因型-表型相关性研究
J Med Genet. 1997 Sep;34(9):788-9. doi: 10.1136/jmg.34.9.788.
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Little phenotypic variability in three CF sibs compound heterozygous for the 621 + 1G-->T and the 711 + 1G-->T mutations.
Clin Genet. 1997 Mar;51(3):214-6. doi: 10.1111/j.1399-0004.1997.tb02456.x.
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How mutant CFTR may contribute to Pseudomonas aeruginosa infection in cystic fibrosis.突变型囊性纤维化跨膜传导调节因子(CFTR)如何导致囊性纤维化患者感染铜绿假单胞菌。
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Role of mutant CFTR in hypersusceptibility of cystic fibrosis patients to lung infections.突变型囊性纤维化跨膜传导调节因子在囊性纤维化患者对肺部感染高度易感性中的作用。
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Prognostic implications of initial oropharyngeal bacterial flora in patients with cystic fibrosis diagnosed before the age of two years.两岁前诊断为囊性纤维化患者初始口咽细菌菌群的预后意义
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Correlation between genotype and phenotype in patients with cystic fibrosis.囊性纤维化患者的基因型与表型之间的相关性。
N Engl J Med. 1993 Oct 28;329(18):1308-13. doi: 10.1056/NEJM199310283291804.
8
Genetic determinants of airways' colonisation with Pseudomonas aeruginosa in cystic fibrosis.囊性纤维化患者气道被铜绿假单胞菌定植的遗传决定因素
Lancet. 1993 Jan 23;341(8839):189-93. doi: 10.1016/0140-6736(93)90062-l.
9
Phenotypic heterogeneity in CF sibs compound heterozygous for the G85E and 621 + 1G-->T mutations.
Clin Genet. 1995 Feb;47(2):110-1. doi: 10.1111/j.1399-0004.1995.tb03939.x.
10
Binding of Pseudomonas aeruginosa to respiratory epithelial cells from patients with various mutations in the cystic fibrosis transmembrane regulator.铜绿假单胞菌与囊性纤维化跨膜调节因子存在各种突变的患者的呼吸道上皮细胞的结合。
J Pediatr. 1995 Feb;126(2):230-3. doi: 10.1016/s0022-3476(95)70549-x.