USE OF PCR FOR THE DETERMINATION OF THE FREQUENCY OF THE DELTA-F508 MUTATION IN BRAZILIAN CYSTIC-FIBROSIS PATIENTS

被引：3
|
作者：
DEMIRANDA, AB
LLERENA, J
DALLALANA, LT
MOURANETO, RS
SUFFYS, PN
DEGRAVE, WM
机构：
[1] INST OSWALDO CRUZ,DEPT BIOQUIM & BIOL MOLEC,AVE BRASIL 4365,BR-21045-900 RIO JANEIRO,RJ,BRAZIL
[2] FDN OSWALDO CRUZ,INST FERNANDES FIGUEIRA,RIO JANEIRO,BRAZIL
[3] UNIV FED RIO DE JANEIRO,INST BIOL,DEPT GENET,RIO JANEIRO,BRAZIL
来源：
MEMORIAS DO INSTITUTO OSWALDO CRUZ | 1993年 / 88卷 / 02期
关键词：
CYSTIC FIBROSIS; PCR; DELTA-F508; DIAGNOSIS;
D O I：
10.1590/S0074-02761993000200022
中图分类号：
R38 [医学寄生虫学]; Q [生物科学];
学科分类号：
07 ; 0710 ; 09 ; 100103 ;
摘要：
The DELTAF508 mutation in the cystic fibrosis (CF) gene was studied in a population of 18 Brazilian CF patients and their 17 families by use of PCR and differential hybridization with oligonucleotides. In a total of 34 chromosomes considered, 12 (35%) carried the F508 deletion, a frequency much lower than that reported in most other populations. As a consequence, CF in Brazil would be predominantly caused by mutations different from the F508 deletion.
引用
收藏
页码：309 / 312
页数：4
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