Okay Thelma Suely, Oliveira Wagner Paes, Raiz-Júnior Roberto, Rodrigues Joaquim Carlos, Del Negro Gilda Maria Bárbaro
Department of Paediatrics, Hospital das Clínicas, Faculty of Medicine, University of São Paulo, São Paulo, SP, Brazil.
Clinics (Sao Paulo). 2005 Apr;60(2):131-4. doi: 10.1590/s1807-59322005000200009. Epub 2005 Apr 26.
To analyze the frequency of the delta F508 (deltaF508) deletion mutation in 108 unrelated cystic fibrosis patients and compare the results with the previously reported data for Brazilian patients. Cystic fibrosis is the leading cause of genetic disease in Caucasians, and the deltaF508 deletion is the most common mutation associated with the disease.
The frequency of the deltaF508 mutation was assessed by means of a polymerase chain reaction (PCR) followed by detection in 8% silver-stained polyacrylamide gels.
Twenty-three of 108 patients (21.3%) were homozygous for the deltaF508 deletion, 50 were heterozygous (46.3%), and the remaining 35 (32.4%) were non-carriers. In terms of alleles, there were 96 mutated (96/216 or 44.45%) and 120 wild-type ones (120/216 or 55.5%).
The 44.45% of affected alleles that were found is higher than the 33% first described in 1993, but slightly lower than the 48% recently reported. Moreover, our data corroborated the idea that the frequency of the deltaF508 mutation is lower in Brazil in comparison to that found in studies carried out in Europe and North American (circa 70.0%), probably due to increased racial miscegenation. These findings must be taken into account before any genetic screening of the population is proposed in Brazil.
分析108例非亲缘关系的囊性纤维化患者中ΔF508缺失突变的频率，并将结果与先前报道的巴西患者数据进行比较。囊性纤维化是白种人中最主要的遗传性疾病病因，而ΔF508缺失是与之相关的最常见突变。
采用聚合酶链反应（PCR），随后在8%银染聚丙烯酰胺凝胶中进行检测，以评估ΔF508突变的频率。
108例患者中，23例（21.3%）为ΔF508缺失纯合子，50例为杂合子（46.3%），其余35例（32.4%）为非携带者。就等位基因而言，有96个突变型（96/216或44.45%）和120个野生型（120/216或55.5%）。
所发现的44.45%的致病等位基因高于1993年首次描述的33%，但略低于最近报道的48%。此外，我们的数据证实了这样一种观点，即与在欧洲和北美进行的研究（约70.0%）相比，巴西的ΔF508突变频率较低，这可能是由于种族混血增加所致。在巴西对人群进行任何基因筛查之前，必须考虑到这些发现。
