Guillermit H, Fanen P, Ferec C
Laboratoire de Biogénétique C.D.T.S., Brest, France.
Hum Genet. 1990 Sep;85(4):450-3. doi: 10.1007/BF02428306.
In the cystic fibrosis (CF) gene, recently cloned, a three base pair deletion (delta F508) has been identified in a majority of CF patients. This deletion has been found in 80% of CF chromosomes in families from north west Brittany. In order to identify new mutations we have selected 43 chromosomes negative for the three base pair deletion from these families and directly sequenced exon 11 after DNA amplification by the polymerase chain reaction. We have detected a base change (G----A) at the 3' end of the consensus sequence of intron ten (namely 1717-1). This mutation destroys a splice site in the cystic fibrosis gene which probably produces a mutant allele. This single nucleotide mutation has been reported on two other CF chromosomes.
在最近克隆出的囊性纤维化（CF）基因中，已在大多数CF患者中鉴定出一个三碱基对缺失（ΔF508）。在来自布列塔尼西北部的家族中，80%的CF染色体存在这种缺失。为了鉴定新的突变，我们从这些家族中挑选了43条对三碱基对缺失呈阴性的染色体，并在通过聚合酶链反应进行DNA扩增后，直接对第11外显子进行测序。我们在第10内含子共有序列的3'端（即1717 - 1）检测到一个碱基变化（G→A）。该突变破坏了囊性纤维化基因中的一个剪接位点，可能产生一个突变等位基因。这种单核苷酸突变在另外两条CF染色体上也有报道。
