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首页> 外文期刊>Brazilian Journal of Medical and Biological Research >Frequency of 8 CFTR gene mutations in cystic fibrosis patients in Minas Gerais, Brazil, diagnosed by neonatal screening
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Frequency of 8 CFTR gene mutations in cystic fibrosis patients in Minas Gerais, Brazil, diagnosed by neonatal screening

机译：新生儿筛查诊断巴西米纳斯吉拉斯州囊性纤维化患者的8个CFTR基因突变的频率

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摘要

The nature and frequency of cystic fibrosis mutations in Brazil is not uniform due to the highly varied ethnic composition of the population. The average frequency of the F508del mutation has been reported to be 48.6%. Other common mutations in Brazil are G542X, R1162X, and N1303K. The aim of this study was to analyze the frequency of 8 mutations (F508del, G542X, R1162X, N1303K, W1282X, G85E, 3120+1G>A, and 711+1G>T) in a sample of 111 newborn patients with cystic fibrosis diagnosed by the Cystic Fibrosis Neonatal Screening Program of Minas Gerais State. The mutations were tested by allele-specific oligonucleotide PCR with specially designed primers. An allele frequency of 48.2% was observed for the F508del mutation, and allele frequencies of 5.41, 4.50, 4.05, and 3.60% were found for the R1162X, G542X, 3120+1G>A, and G85E mutations, respectively. The genotypes obtained were in Hardy-Weinberg equilibrium. These data demonstrate that the 8-mutation panel studied here has extensive coverage (68%) for the cystic fibrosis mutations in Minas Gerais. These data improve our knowledge of cystic fibrosis in Brazil, particularly in this region. In addition, this investigation contributed to the establishment of a sensitive and population-specific mutation panel, which can be helpful for molecular diagnosis of cystic fibrosis.
机译：由于人口种族组成的高度差异，巴西囊性纤维化突变的性质和频率并不统一。据报道，F508del突变的平均频率为48.6％。巴西的其他常见突变是G542X，R1162X和N1303K。这项研究的目的是分析诊断为111例患有囊性纤维化的新生儿患者样本中的8个突变（F508del，G542X，R1162X，N1303K，W1282X，G85E，3120 + 1G> A和711 + 1G> T）的频率由米纳斯吉拉斯州囊性纤维化新生儿筛查计划提供。通过使用专门设计的引物通过等位基因特异性寡核苷酸PCR测试突变。 F508del突变的等位基因频率为48.2％，R1162X，G542X，3120 + 1G> A和G85E突变的等位基因频率分别为5.41、4.50、4.05和3.60％。获得的基因型处于Hardy-Weinberg平衡状态。这些数据表明，本文研究的8个突变组对米纳斯吉拉斯州的囊性纤维化突变具有广泛的覆盖率（68％）。这些数据提高了我们对巴西，尤其是该地区囊性纤维化的认识。此外，这项调查有助于建立敏感的和特定人群的突变组，这有助于分子诊断囊性纤维化。

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