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对30种已知囊性纤维化突变的分析：在法国南部，10种突变占非ΔF508染色体的27%。

Analysis of 30 known cystic fibrosis mutations: 10 mutations account for 27% of non-delta F508 chromosomes in southern France.

作者信息

Claustres M, Desgeorges M, Kjellberg P, Tissot C, Demaille J

机构信息

Laboratoire de Biochimie Génétique, INSERM U249, CNRS UPR8402, Institut de Biologie, Montpellier, France.

出版信息

Hum Genet. 1992 Dec;90(4):464-6. doi: 10.1007/BF00220479.

DOI:10.1007/BF00220479
PMID:1483707
Abstract

We have analyzed 131 unrelated families from Southern France for 29 known cystic fibrosis (CF) mutations identified in 8 exons of the cystic fibrosis transmembrane regulator gene. All these mutations were detected by amplification of DNA by the polymerase chain reaction (PCR) followed by restriction enzyme digestion or hybridization with allele specific oligoprobes. The most frequent mutations after the delta F508 deletion (frequency: 63%) were G542X (5.3%), delta I507 (1.1%), and N1303K (0.76%). Seven other mutations (621 + 1G --> T, Y122X, R347P, R334W, S549N, G551D, R1162X) were each identified in only one CF chromosome. Apart from G542X, most of the other mutations identified in this study were found to be associated with 7-(GATT)-repeats allele of IVS6A. In Southern France, only 73% of CF chromosomes could be identified by the analysis of 30 mutations.

摘要

我们分析了来自法国南部的131个非近亲家庭，检测了囊性纤维化跨膜传导调节因子基因8个外显子中的29个已知囊性纤维化（CF）突变。所有这些突变均通过聚合酶链反应（PCR）扩增DNA，随后进行限制性内切酶消化或与等位基因特异性寡核苷酸探针杂交来检测。除了F508缺失（频率：63%）外，最常见的突变是G542X（5.3%）、I507缺失（1.1%）和N1303K（0.76%）。其他7种突变（621 + 1G→T、Y122X、R347P、R334W、S549N、G551D、R1162X）仅在一条CF染色体上被鉴定出来。除G542X外，本研究中鉴定出的大多数其他突变与IVS6A的7-（GATT）-重复等位基因相关。在法国南部，通过分析30种突变仅能鉴定出73%的CF染色体。

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本文引用的文献

1
Identification of the cystic fibrosis gene: genetic analysis.囊性纤维化基因的鉴定：遗传分析
Science. 1989 Sep 8;245(4922):1073-80. doi: 10.1126/science.2570460.
2
Worldwide survey of the delta F508 mutation--report from the cystic fibrosis genetic analysis consortium.囊性纤维化跨膜传导调节因子（CFTR）基因F508缺失突变的全球调查——来自囊性纤维化遗传分析联盟的报告
Am J Hum Genet. 1990 Aug;47(2):354-9.
3
Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients.
Cell. 1990 Jun 1;61(5):863-70. doi: 10.1016/0092-8674(90)90196-l.
4
Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene.在与囊性纤维化基因的两个假定核苷酸（ATP）结合折叠相对应的区域中鉴定突变。
Proc Natl Acad Sci U S A. 1990 Nov;87(21):8447-51. doi: 10.1073/pnas.87.21.8447.
5
Two patients with cystic fibrosis, nonsense mutations in each cystic fibrosis gene, and mild pulmonary disease.两名患有囊性纤维化的患者，每个囊性纤维化基因都存在无义突变，且患有轻度肺部疾病。
N Engl J Med. 1990 Dec 13;323(24):1685-9. doi: 10.1056/NEJM199012133232407.
6
Three point mutations in the CFTR gene in French cystic fibrosis patients: identification by denaturing gradient gel electrophoresis.法国囊性纤维化患者CFTR基因中的三个点突变：通过变性梯度凝胶电泳鉴定。
Hum Genet. 1990 Sep;85(4):446-9. doi: 10.1007/BF02428305.
7
Gradient of distribution in Europe of the major CF mutation and of its associated haplotype. European Working Group on CF Genetics (EWGCFG).欧洲主要囊性纤维化（CF）突变及其相关单倍型的分布梯度。欧洲CF遗传学工作组（EWGCFG）。
Hum Genet. 1990 Sep;85(4):436-45. doi: 10.1007/BF02428304.
8
The search for south European cystic fibrosis mutations: identification of two new mutations, four variants, and intronic sequences.对南欧囊性纤维化突变的研究：鉴定出两个新突变、四个变异体及内含子序列。
Genomics. 1991 May;10(1):193-200. doi: 10.1016/0888-7543(91)90500-e.
9
A mutation in the second nucleotide binding fold of the cystic fibrosis gene.囊性纤维化基因第二个核苷酸结合结构域中的突变。
Am J Hum Genet. 1991 Mar;48(3):608-12.
10
Two frameshift mutations in the cystic fibrosis gene.囊性纤维化基因中的两个移码突变。
Am J Hum Genet. 1991 Feb;48(2):227-31.