Beta-defensin genomic copy number is not a modifier locus for cystic fibrosise

被引：29

作者：

Hollox, Edward J. ^{[1
]}

Davies, Jane ^{[2
,3
]}

Griesenbach, Uta ^{[2
]}

Burgess, Juliana ^{[4
]}

Alton, Eric W. F. W. ^{[2
]}

Al Armour, John ^{[1
]}

机构：

[1] Univ Nottingham, Inst Genet, Nottingham, England

[2] Natl Heart & Lung Inst, Imperial Coll, Fac Med, Dept Gene Therapy, London, England

[3] Royal Brompton Hosp, Paediat Resp Dis, London, England

[4] Royal Brompton Hosp, Adult Cyst Fibrosis, London, England

来源：

JOURNAL OF NEGATIVE RESULTS IN BIOMEDICINE | 2005年 / 4卷

基金：

英国惠康基金;

关键词：

D O I：

10.1186/1477-5751-4-9

中图分类号：

R-3 [医学研究方法]; R3 [基础医学];

学科分类号：

1001 ;

摘要：

Human beta-defensin 2 (DEFB4, also known as DEFB2 or hBD-2) is a salt-sensitive antimicrobial protein that is expressed in lung epithelia. Previous work has shown that it is encoded in a cluster of beta-defensin genes at 8p23.1, which varies in copy number between 2 and 12 in different individuals. We determined the copy number of this locus in 355 patients with cystic fibrosis (CF), and tested for correlation between beta-defensin cluster genomic copy number and lung disease associated with CF. No significant association was found.

引用

收藏

页数：5

相关论文

共 28 条

[1] Copy number polymorphism and expression level variation of the human α-defensin genes DEFA1 and DEFA3 [J].

Aldred, PMR ;

Hollox, EJ ;

Armour, JAL .

HUMAN MOLECULAR GENETICS, 2005, 14 (14) :2045-2052

[2] Measurement of locus copy number by hybridisation with amplifiable probes [J].

Armour, JAL ;

Sismani, C ;

Patsalis, PC ;

Cross, G .

NUCLEIC ACIDS RESEARCH, 2000, 28 (02) :605-609

[3] Burkholderia cepacia is resistant to the antimicrobial activity of airway epithelial cells [J].

Baird, RM ;

Brown, H ;

Smith, AW ;

Watson, ML .

IMMUNOPHARMACOLOGY, 1999, 44 (03) :267-272

[4] Human β-defensin 2 is a salt-sensitive peptide antibiotic expressed in human lung [J].

Bals, R ;

Wang, XR ;

Wu, ZR ;

Freeman, T ;

Bafna, V ;

Zasloff, M ;

Wilson, JM .

JOURNAL OF CLINICAL INVESTIGATION, 1998, 102 (05) :874-880

[5]

Chen Christiane I-U, 2004, J Cyst Fibros, V3, P45, DOI 10.1016/j.jcf.2003.12.008

[6] Impaired pulmonary status in cystic fibrosis adults with two mutated MBL-2 alleles [J].

Davies, JC ;

Turner, MW ;

Klein, N .

EUROPEAN RESPIRATORY JOURNAL, 2004, 24 (05) :798-804

[7] Complex SNP-related sequence variation in segmental genome duplications [J].

Fredman, D ;

White, SJ ;

Potter, S ;

Eichler, EE ;

Den Dunnen, JT ;

Brookes, AJ .

NATURE GENETICS, 2004, 36 (08) :861-866

[8] Association of variant alleles of mannose binding lectin with severity of pulmonary disease in cystic fibrosis: cohort study [J].

Gabolde, M ;

Guilloud-Bataille, M ;

Feingold, J ;

Besmond, C .

BRITISH MEDICAL JOURNAL, 1999, 319 (7218) :1166-1167

[9] Association of mannose-binding lectin gene heterogeneity with severity of lung disease and survival in cystic fibrosis [J].

Garred, P ;

Pressler, T ;

Madsen, HO ;

Frederiksen, B ;

Svejgaard, A ;

Hoiby, N ;

Schwartz, M ;

Koch, C .

JOURNAL OF CLINICAL INVESTIGATION, 1999, 104 (04) :431-437

[10] Human beta-defensin-1 is a salt-sensitive antibiotic in lung that is inactivated in cystic fibrosis [J].

Goldman, MJ ;

Anderson, GM ;

Stolzenberg, ED ;

Kari, UP ;

Zasloff, M ;

Wilson, JM .

CELL, 1997, 88 (04) :553-560