IDENTIFICATION OF 3 NOVEL CYSTIC-FIBROSIS MUTATIONS IN A SAMPLE OF ITALIAN CYSTIC-FIBROSIS PATIENTS

被引：20

作者：

AUDREZET, MP

NOVELLI, G

MERCIER, B

SANGIUOLO, F

MACERATESI, P

FEREC, C

DALLAPICCOLA, B

机构：

[1] CDTS, CTR BIOGENET, BP 454, 40 RUE FELIX DANTEC, F-29275 BREST, FRANCE

[2] UNIV CATTOLICA SACRO CUORE, CHAIR HUMAN GENET, I-00168 ROME, ITALY

[3] UNIV ROMA TOR VERGATA, CHAIR HUMAN GENET, ROME, ITALY

[4] CSS HOSP IRCCS, SAN GIOVANNI ROTONDO, ITALY

来源：

HUMAN HEREDITY | 1993年 / 43卷 / 05期

关键词：

CYSTIC FIBROSIS GENE MUTATIONS; DENATURING GRADIENT GEL ELECTROPHORESIS; ITALIAN POPULATION;

D O I：

10.1159/000154147

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

An analysis of 274 non-DELTAF508 Italian cystic fibrosis chromosomes was carried out to determine their molecular defect. In a first step, the DELTAF508 and 59 other mutations were detected by polyacrylamide gel electrophoresis, restriction digestion, and the amplification refractory mutation system (ARMS) technique. The molecular defects of the other chromosomes were screened for by denaturing gradient gel electrophoresis analysis of exons 3, 4, 7, 11, 12, 13, 14a, 17b, 19 and 20. Direct sequencing was carried out if necessary. This approach allowed us to identify 3 novel mutations, namely M348K, D614G and F693L.

引用

页码：295 / 300

页数：6

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