Rapid detection of CFTR gene rearrangements impacts on genetic counselling in cystic fibrosis -: art. no. e118
Rapid detection of CFTR gene rearrangements impacts on genetic counselling in cystic fibrosis -: art. no. e118
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DOI：
10.1136/jmg.2004.022400
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发表时间：
2004-11-01
影响因子：
4
通讯作者：
Girodon, E
中科院分区：
文献类型：
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作者：
Niel, F;Martin, J;Girodon, E
我们共调查了78名无关的法国患者或来自混合种族/地理来源的已故患者的父母，并对他们进行了完整的CFTR基因筛查。根据先前筛选的结果将受试者分为三组：（i）43名符合CF 15诊断标准并携带CF突变的CF患者，以及7名已故CF患者的父母，在另一父母中已经鉴定出CF突变（50个未鉴定的CF等位基因）;（ii）12名未鉴定CF突变的CF患者（24个未鉴定的CF等位基因）;和（iii）16名患者明显为CFTR突变纯合子，（F508 del Jn= 6-，2104 insAJ 2109 del 10，S945 L，3120+ 1GRA，N1303 K）或CFTR相关疾病，即，孤立的CBAVD（D110 H，R117 H，L997 F，R74 W-D1270 N）或DB（R334 W，R668 CG 576 A-D443 Y）（0-16个未鉴定的CF等位基因）。在这些情况下，无法通过家庭分析确认身份。在
METHODS Patients We investigated a total of 78 unrelated French patients or parents of deceased patients from mixed ethnic/geographic origins and subjected them to a complete CFTR gene screening. The subjects were divided into three groups according to the results of a previous screening:(i) 43 CF patients who fulfilled the diagnostic criteria of CF15 and who carried a CF mutation, and seven parents of deceased CF patients, a CF mutation having already been identified in the other parent (50 unidentified CF alleles);(ii) 12 CF patients with no identified CF mutation (24 unidentified CF alleles); and (iii) 16 patients apparently homozygous for a CFTR mutation and who had CF (F508del Jn= 6-, 2104insAJ2109del10, S945L, 3120+ 1GRA, N1303K) or a CFTR related disease, that is, isolated CBAVD (D110H, R117H, L997F, R74W-D1270N) or DB (R334W, R668CG576A-D443Y)(0–16 unidentified CF alleles). In these cases, status confirmation was not possible by family analysis. In