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Distribution patterns of the delta F508 mutation in the CFTR gene of CF-linked marker haplotypes in the German population.

作者信息

Reis A, Bremer S, Schlösser M, Dueck M, Böhm I, Hundrieser J, Macek M, Stuhrmann M, Wagner M, Dörk T

机构信息

Institut für Humangenetik, Freie Universität, Berlin, Germany.

出版信息

Hum Genet. 1990 Sep;85(4):421-2. doi: 10.1007/BF02428292.

DOI:10.1007/BF02428292
PMID:2210758
Abstract

We have measured the frequency of the delta F508 mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and its association with cystic fibrosis (CF)-linked marker haplotypes in the German population. Based on the analysis of 400 CF chromosomes, the frequency of the delta F508 mutation is estimated to be 77.3%, the vast majority being associated with marker haplotype KM19-XV2c 2 1. Our data further suggest the presence of another frequent CF mutation associated with this marker haplotype.

摘要

相似文献

1
Distribution patterns of the delta F508 mutation in the CFTR gene of CF-linked marker haplotypes in the German population.
Hum Genet. 1990 Sep;85(4):421-2. doi: 10.1007/BF02428292.
2
Frequency of the delta F508 mutation and XV2c,KM19 haplotypes in cystic fibrosis families from The Netherlands: haplotypes without delta F508 still in disequilibrium.
Hum Genet. 1990 Sep;85(4):425-7. doi: 10.1007/BF02428296.
3
Frequency of delta-F508 mutation and XV2C/KM19 haplotypes in Cuban cystic fibrosis families.古巴囊性纤维化家族中Δ-F508突变和XV2C/KM19单倍型的频率。
Hum Hered. 1995 Jan-Feb;45(1):55-7. doi: 10.1159/000154256.
4
Deletion delta F508 and haplotype analysis of CFTR gene region in Slovak CF patients.斯洛伐克囊性纤维化患者CFTR基因区域的ΔF508缺失及单倍型分析
Hum Genet. 1992 May;89(3):305-6. doi: 10.1007/BF00220546.
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Extended haplotype analysis of cystic fibrosis mutations and its implications for the selective advantage hypothesis.囊性纤维化突变的扩展单倍型分析及其对选择性优势假说的影响。
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Frequency of the F508 deletion in the CFTR gene in Turkish cystic fibrosis patients.土耳其囊性纤维化患者CFTR基因中F508缺失的频率。
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8
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10
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引用本文的文献

1
Mutation analysis in the diagnosis of cystic fibrosis.
Eur J Pediatr. 1993 Nov;152(11):909-11. doi: 10.1007/BF01957528.
2
A pooling strategy for heterozygote screening of the delta F508 cystic fibrosis mutation.
Hum Genet. 1991 Jan;86(3):289-91. doi: 10.1007/BF00202411.
3
A cystic fibrosis patient with the nonsense mutation G542X and the splice site mutation 1717-1.一名患有无义突变G542X和剪接位点突变1717-1的囊性纤维化患者。
J Med Genet. 1991 Dec;28(12):878-80. doi: 10.1136/jmg.28.12.878.
4
Discrimination between recurrent mutation and identity by descent: application to point mutations in exon 11 of the cystic fibrosis (CFTR) gene.
Hum Genet. 1991 Aug;87(4):457-61. doi: 10.1007/BF00197168.
5
Cystic fibrosis with three mutations in the cystic fibrosis transmembrane conductance regulator gene.囊性纤维化跨膜传导调节因子基因存在三种突变的囊性纤维化
Hum Genet. 1991 Aug;87(4):441-6. doi: 10.1007/BF00197165.
6
Intra- and extragenic marker haplotypes of CFTR mutations in cystic fibrosis families.囊性纤维化家族中CFTR突变的基因内和基因外标记单倍型。
Hum Genet. 1992 Feb;88(4):417-25. doi: 10.1007/BF00215676.