Martins C S, Ribeiro F, Costa F F
Departamento de Genética Médica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, SP, Brasil.
Braz J Med Biol Res. 1993 Oct;26(10):1037-40.
Cystic fibrosis (CF) nonrelated patients (N = 24) from São Paulo State, Brazil, were screened for the presence of the delta F 508 mutation by PCR amplification of the deletion region with the primers C16B (5'GTTTTCCTGGATTATGCCTGGGCAC3') and C16D (5'GTTGGCATGCTTTGATGACGCTTC 3'), and by acrylamide gel electrophoresis. The allelic frequency of the delta F 508 mutation was 33% (15/48 chromosomes). The genotype distribution among the patients showed 12.5% (N = 3) of delta F 508 homozygotes, 37.5% (N = 9) of delta F heterozygotes and 50% (N = 12) of non-carriers of the mutation. The frequency observed in this study is lower than that estimated for the North American and North European population (75% to 80%) and is similar to that described in Southern Europe (25% to 50%) which is consistent with the origins of this population.
对来自巴西圣保罗州的24名非囊性纤维化（CF）患者进行了筛查，通过用引物C16B（5'GTTTTCCTGGATTATGCCTGGGCAC3'）和C16D（5'GTTGGCATGCTTTGATGACGCTTC 3'）对缺失区域进行PCR扩增，并通过丙烯酰胺凝胶电泳来检测是否存在ΔF508突变。ΔF508突变的等位基因频率为33%（48条染色体中的15条）。患者中的基因型分布显示，ΔF508纯合子占12.5%（N = 3），ΔF杂合子占37.5%（N = 9），非突变携带者占50%（N = 12）。本研究中观察到的频率低于北美和北欧人群的估计频率（75%至80%），与南欧描述的频率（25%至50%）相似，这与该人群的起源一致。
