FREQUENCY OF THE DELTA-F508-MUTATIONS AND EXON-11-MUTATIONS IN NORWEGIAN CYSTIC-FIBROSIS PATIENTS

被引:0
作者
EIKLID, K
TRANEBJAERG, L
EIKEN, HG
PEDERSEN, JC
MICHALSEN, H
FLUGE, G
SCHWARTZ, M
NILSEN, BR
BOLLE, R
SKYBERG, D
BOMAN, H
BERG, K
机构
[1] AKER HOSP,DEPT PEDIAT,OSLO 5,NORWAY
[2] HAUKELAND HOSP,DEPT PEDIAT,N-5016 BERGEN,NORWAY
[3] UNIV COPENHAGEN HOSP,CLIN GENET SECT,DK-2100 COPENHAGEN,DENMARK
[4] AUST AGDER HOSP,DEPT PEDIAT,ARENDAL,NORWAY
[5] REG HOSP,POLAR INST MED GENET,TROMSO,NORWAY
[6] NORDLAND HOSP,DEPT PEDIAT,BODO,NORWAY
关键词
CYSTIC FIBROSIS; EXON; 11; MUTATIONS; DELTA-F508; MUTATION;
D O I
暂无
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
We have searched for the DELTAF508 mutation in 77 Norwegian cystic fibrosis patients. Of the 154 chromosomes tested, 93 (60%) carried the DELTAF508 mutation. Haplotypes at the D7S23 locus (KM19 and XV2C markers) were determined. Of 81 chromosomes with the F508 mutation, the B haplotype was found on 77. We found three patients with the G551D and one patient with the R553X mutation in exon 11 of the CFTR locus.
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页码:12 / 14
页数:3
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