EXHAUSTIVE SCREENING OF EXON 10 CFTR GENE-MUTATIONS AND POLYMORPHISMS BY DENATURING GRADIENT GEL-ELECTROPHORESIS - APPLICATIONS TO GENETIC-COUNSELING IN CYSTIC-FIBROSIS

被引：10

作者：

GHANEM, N ^{[1
]}

FANEN, P ^{[1
]}

MARTIN, J ^{[1
]}

CONTEVILLE, P ^{[1
]}

YAHIACHERIF, Z ^{[1
]}

VIDAUD, M ^{[1
]}

GOOSSENS, M ^{[1
]}

机构：

[1] CHU HENRI MONDOR,GENET MOLEC & DIAGNOST PRENATAL LAB,INSERM,U91,F-94010 CRETEIL,FRANCE

来源：

MOLECULAR AND CELLULAR PROBES | 1992年 / 6卷 / 01期

关键词：

CYSTIC FIBROSIS; DENATURING GRADIENT GEL ELECTROPHORESIS; PRENATAL DIAGNOSIS;

D O I：

10.1016/0890-8508(92)90068-9

中图分类号：

Q5 [生物化学];

学科分类号：

071010 ; 081704 ;

摘要：

Several mutations in the cystic fibrosis (CF) gene have been reported. Ten, including the most prevalent mutation in Caucasians, ΔF508, are located in exon 10 of the gene, in addition to five sequence polymorphisms. We have previously presented a strategy based on denaturing gradient gel analysis for the rapid detection of any nucleotide variation in all the exons and their immediate flanking regions. We now report the application of this method to the simultaneous detection of all mutations and polymorphisms located in exon 10, together with the use of exon 10 polymorphisms, especially the most frequent one (M470V), as intragenic markers for prenatal diagnosis of cystic fibrosis in families with at least one affected child and unknown disease-causing mutations. © 1992.

引用

页码：27 / 31

页数：5

共 13 条

[1] 3 POINT MUTATIONS IN THE CFTR GENE IN FRENCH CYSTIC-FIBROSIS PATIENTS - IDENTIFICATION BY DENATURING GRADIENT GEL-ELECTROPHORESIS
VIDAUD, M
FANEN, P
MARTIN, J
GHANEM, N
NICOLAS, S
GOOSSENS, M
HUMAN GENETICS, 1990, 85 (04) : 446 - 449
[2] DETECTING PRION PROTEIN GENE-MUTATIONS BY DENATURING GRADIENT GEL-ELECTROPHORESIS
FINK, JK
PEACOCK, ML
WARREN, JT
ROSES, AD
PRUSINER, SB
HUMAN MUTATION, 1994, 4 (01) : 42 - 50
[3] DETECTION OF MUTATIONS IN THE CFTR GENE BY DENATURING GRADIENT GEL-ELECTROPHORESIS IN ITALIAN CF PATIENTS
DEVOTO, M
RONCHETTO, P
TELLERIA, JJ
ROMEO, G
FANEN, P
GOOSSENS, M
FERRARI, M
MAGNANI, C
SEIA, M
CREMONESI, L
AMERICAN JOURNAL OF HUMAN GENETICS, 1991, 49 (04) : 185 - 185
[4] MUTATION HETEROGENEITY OF CYSTIC-FIBROSIS IN FRANCE - SCREENING BY DENATURING GRADIENT GEL-ELECTROPHORESIS USING PSORALEN-MODIFIED OLIGONUCLEOTIDE
BIENVENU, T
CAZENEUVE, C
KAPLAN, JC
BELDJORD, C
HUMAN MUTATION, 1995, 6 (01) : 23 - 29
[5] PRENATAL-DIAGNOSIS OF CYSTIC-FIBROSIS IN DIFFERENT EUROPEAN POPULATIONS - APPLICATION OF DENATURING GRADIENT GEL-ELECTROPHORESIS
FEREC, C
VERLINGUE, C
AUDREZET, MP
GUILLERMIT, H
QUERE, I
RAGUENES, O
MERCIER, B
FETAL DIAGNOSIS AND THERAPY, 1993, 8 (05) : 341 - 350
[6] DETECTION OF MUTATIONS AND POLYMORPHISMS OF G(S)ALPHA, SUBUNIT GENE BY DENATURING GRADIENT GEL-ELECTROPHORESIS
GEJMAN, PV
WEINSTEIN, LS
HETEROTRIMERIC G PROTEINS, 1994, 237 : 308 - 320
[7] RETROSPECTIVE STUDY OF THE CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) GENE-MUTATIONS IN GUTHRIE CARDS FROM A LARGE COHORT OF NEONATAL SCREENING FOR CYSTIC-FIBROSIS
VERLINGUE, C
MERCIER, B
LECOQ, I
AUDREZET, MP
LAROCHE, D
TRAVERT, G
FEREC, C
HUMAN GENETICS, 1994, 93 (04) : 429 - 434
[8] IDENTIFICATION OF MITOCHONDRIAL GENE-MUTATIONS ASSOCIATED WITH LEBER HEREDITARY OPTIC NEUROPATHY BY GC-CLAMPED DENATURING GRADIENT GEL-ELECTROPHORESIS
COPPINGER, JM
NICHOLS, BE
STREB, LM
MACK, RI
SHEFFIELD, VC
STONE, EM
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 1992, 33 (04) : 1221 - 1221
[9] DETECTION OF P53 GENE-MUTATIONS IN RAT HEPATOCELLULAR-CARCINOMA CELL-LINES BY DENATURING GRADIENT GEL-ELECTROPHORESIS
FUKUDA, I
OGAWA, K
MOLECULAR CARCINOGENESIS, 1993, 7 (04) : 257 - 262
[10] EXHAUSTIVE ANALYSIS OF THE P53 GENE CODING SEQUENCE BY DENATURING GRADIENT GEL-ELECTROPHORESIS - APPLICATION TO THE DETECTION OF POINT MUTATIONS IN ACUTE LEUKEMIAS
PIGNON, JM
VINATIER, I
FANEN, P
JONVEAUX, P
TOURNILHAC, O
IMBERT, M
ROCHANT, H
GOOSSENS, M
HUMAN MUTATION, 1994, 3 (02) : 126 - 132

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