DETECTION OF 3 RARE FRAMESHIFT MUTATIONS IN THE CYSTIC-FIBROSIS GENE IN AN AFRICAN-AMERICAN (CF444DELA), AN ITALIAN (CF2522INSC), AND A SOVIET (CF3821DELT)

被引:35
作者
WHITE, MB
KRUEGER, LJ
HOLSCLAW, DS
GERRARD, BC
STEWART, C
QUITTELL, L
DOLGANOV, G
BARANOV, V
IVASCHENKO, T
KAPRONOV, NI
SEBASTIO, G
CASTIGLIONE, O
DEAN, M
机构
[1] MOSCOW PEDIAT INST,MOSCOW,USSR
[2] NAPLES UNIV,I-80138 NAPLES,ITALY
[3] FREDERICK CANC RES & DEV CTR,DYNCORP,PROGRAM RESOURCES INC,BIOL CARCINOGENESIS DEV PROGRAM,FREDERICK,MD
[4] LENINGRAD OBSTET INST,LENINGRAD,USSR
[5] HAHNEMANN UNIV,PHILADELPHIA,PA 19102
[6] COLUMBIA UNIV,MED CTR,NEW YORK,NY 10027
[7] MM SHEMYAKIN BIOORGAN CHEM INST,MOSCOW 117312,USSR
关键词
D O I
10.1016/0888-7543(91)90510-L
中图分类号
Q81 [生物工程学(生物技术)]; Q93 [微生物学];
学科分类号
071005 ; 0836 ; 090102 ; 100705 ;
摘要
We have identified three new frameshift mutations in the CFTR gene in patients with cystic fibrosis (CF). The first one involves the deletion of an adenine nucleotide in exon 4 in an African-American patient (CF444delA), the second involves the insertion of a cytosine nucleotide in exon 13 in an Italian patient (CF2522insC), and the third results from the deletion of a thymidine nucleotide in exon 19 in a Soviet patient (CF3821delT). Each mutation is predicted to result in premature termination of the CFTR protein. © 1991.
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收藏
页码:266 / 269
页数:4
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