Russo M P, Romeo G, Devoto M, Barbujani G, Cabrini G, Giunta A, D'Alcamo E, Leoni G, Sangiuolo F, Magnani C
Istituto Giannina Gaslini, Laboratorio di Genetica Molecolare, Genova, Italy.
Hum Mutat. 1995;5(1):23-7. doi: 10.1002/humu.1380050103.
Three intragenic microsatellites of the CFTR gene, a TA and a CA repeats, namely IVS17bTA and IVS17bCA, located in intron 17b and a CA repeat (IVS8CA) located in intron 8 of the CFTR gene, were analyzed in a large sample of Italian cystic fibrosis (CF) and normal chromosomes. Linkage disequilibrium was evaluated between each marker and difference CF mutations on a total of 377 CF and 358 normal chromosomes. Our results are consistent with the hypothesis that all delta F508 chromosomes derive from a single mutational event. The same hypothesis is valid for mutations G542X, N1303K, 1717-1G-->A, which might have been originated more recently than delta F508.
在一大组意大利囊性纤维化（CF）患者和正常染色体样本中，对CFTR基因的三个基因内微卫星进行了分析，其中一个TA重复序列和一个CA重复序列，即位于第17b内含子的IVS17bTA和IVS17bCA，以及位于CFTR基因第8内含子的一个CA重复序列（IVS8CA）。在总共377条CF染色体和358条正常染色体上，评估了每个标记与不同CF突变之间的连锁不平衡。我们的结果与以下假设一致：所有ΔF508染色体均源自单一突变事件。相同的假设适用于突变G542X、N1303K、1717-1G→A，这些突变可能比ΔF508出现得更晚。
