2 FRAMESHIFT MUTATIONS IN THE CYSTIC-FIBROSIS GENE

被引：0

作者：

IANNUZZI, MC

STERN, RC

COLLINS, FS

HON, CT

HIDAKA, N

STRONG, T

BECKER, L

DRUMM, ML

WHITE, MB

GERRARD, B

DEAN, M

机构：

[1] UNIV MICHIGAN,DEPT HUMAN GENET,ANN ARBOR,MI 48109

[2] UNIV MICHIGAN,HOWARD HUGHES MED INST,ANN ARBOR,MI 48109

[3] CASE WESTERN RESERVE UNIV,SCH MED,DEPT PEDIAT,CLEVELAND,OH 44106

[4] RAINBOW BABIES & CHILDRENS HOSP,CLEVELAND,OH 44106

[5] NCI,VIRAL CARCINOGENESIS LAB,FREDERICK,MD 21701

[6] FREDERICK CANC RES & DEV CTR,PROGRAM RESOURCES INC,FREDERICK,MD

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 1991年 / 48卷 / 02期

关键词：

D O I：

暂无

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Cystic fibrosis (CF) is a recessive disease caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. We have identified in exon 7 two frameshift mutations, one caused by a two-nucleotide insertion and the other caused by a one-nucleotide deletion; these mutations-CF1154insTC and CF1213delT, respectively, are predicted to shift the reading frame of the protein and to introduce UAA(ochre) termination codons at residues 369 and 368.

引用

页码：227 / 231

页数：5

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