Molecular analysis in Brazilian cystic fibrosis patients reveals five novel mutations

被引:28
作者
Bernardino, ALF
Ferri, A
Passos-Bueno, MR
Kim, CEA
Nakaie, CMA
Gomes, CET
Damaceno, N
Zatz, M
机构
[1] Univ Sao Paulo, Inst Biociencias, Dept Biol, BR-05508900 Sao Paulo, Brazil
[2] Univ Sao Paulo, Ctr Estudos Genoma Human, Dept Biol, BR-05508900 Sao Paulo, Brazil
[3] UNIFESP, Escola Paulista Med, Dept Pneumol, Sao Paulo, Brazil
[4] Santa Casa Misericordia, Dept Pediat, Sao Paulo, Brazil
来源
GENETIC TESTING | 2000年 / 4卷 / 01期
关键词
D O I
10.1089/109065700316516
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
We have performed molecular genetic analyses on 160 Brazilian patients diagnosed with cystic fibrosis (CF). Screening of mutations in 320 CF chromosomes was performed through single strand conformation polymorphism (SSCP) and heteroduplex analyses assay followed by DNA sequencing of the 27 exons and exon/intron boundaries of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The frequency of CFTR variants of T-tract length of intron 8 (IVS8 Tn) was also investigated. This analysis enabled the detection of 232/320 CF mutations (72.2%) and complete genotyping of 61% of the patients. The Delta F508 mutation was found in 48.4% of the alleles, Another fifteen mutations (previously reported) mere detected: G542X, R1162X, N1303K, R334W, W1282X, G58E, L206W, R553X, 621+1G-->T, V232D, 1717-1G-->A, 2347 delG, R851L, 2789+5G-->A, and W1089X. Five novel mutations were identified, V201M (exon 6a), Y275X (exon 6b), 2686 insT (exon 14a), 3171 delC (exon 17a), and 3617 delGA (exon 19), These results contribute to the molecular characterization of CF in the Brazilian population. In addition, the identification of the novel mutation Y275X allowed prenatal diagnosis in a high-risk fetus.
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页码:69 / 74
页数:6
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