ECTOPIC (ILLEGITIMATE) TRANSCRIPTION - NEW POSSIBILITIES FOR THE ANALYSIS AND DIAGNOSIS OF HUMAN GENETIC-DISEASE

被引：33

作者：

COOPER, DN ^{[1
]}

BERG, LP ^{[1
]}

KAKKAR, VV ^{[1
]}

REISS, J ^{[1
]}

机构：

[1] INST HUMAN GENET,D-37079 GOTTINGEN,GERMANY

来源：

ANNALS OF MEDICINE | 1994年 / 26卷 / 01期

关键词：

ECTOPIC/ILLEGITIMATE TRANSCRIPTS; HUMAN GENETIC DISEASE;

D O I：

10.3109/07853899409147321

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

By means of the Polymerase Chain Reaction (PCR),'ectopic' or 'illegitimate' transcripts from any gene may be amplified from any tissue or cell type. RNA transcript analysis is therefore no longer dependent upon possession of the often inaccessible 'expressing' tissue. We review here the applications of ectopic transcript analysis to mutation detection and characterization, analysis of RNA splicing and the study of the genotype-phenotype relationship.

引用

收藏

页码：9 / 14

页数：6

相关论文

共 59 条

[1] ILLEGITIMATE TRANSCRIPTION OF THE PHENYLALANINE-HYDROXYLASE GENE IN LYMPHOCYTES FOR IDENTIFICATION OF MUTATIONS IN PHENYLKETONURIA [J].

ABADIE, V ;

JARUZELSKA, J ;

LYONNET, S ;

MILLASSEAU, P ;

BERTHELON, M ;

REY, F ;

MUNNICH, A ;

REY, J .

HUMAN MOLECULAR GENETICS, 1993, 2 (01) :31-34

[2]

[Anonymous], HUMAN GENE MUTATION

[3] DENOVO SPLICE SITE MUTATION IN THE ANTITHROMBIN-III (AT3) GENE CAUSING RECURRENT VENOUS THROMBOSIS - DEMONSTRATION OF EXON SKIPPING BY ECTOPIC TRANSCRIPT ANALYSIS [J].

BERG, LP ;

GRUNDY, CB ;

THOMAS, F ;

MILLAR, DS ;

GREEN, PJ ;

SLOMSKI, R ;

REISS, J ;

KAKKAR, VV ;

COOPER, DN .

GENOMICS, 1992, 13 (04) :1359-1361

[4]

BERG LP, 1990, HUM GENET, V85, P655

[5] MILD CYSTIC-FIBROSIS IN CHILD HOMOZYGOUS FOR G542 NONSENSE MUTATION IN CF GENE [J].

BONDUELLE, M ;

LISSENS, W ;

LIEBAERS, I ;

MALFROOT, A ;

DAB, I .

LANCET, 1991, 338 (8760) :189-189

[6] QUANTITATIVE EXPRESSION PATTERNS OF MULTIDRUG-RESISTANCE P-GLYCOPROTEIN (MDR1) AND DIFFERENTIALLY SPLICED CYSTIC-FIBROSIS TRANSMEMBRANE-CONDUCTANCE REGULATOR MESSENGER-RNA TRANSCRIPTS IN HUMAN EPITHELIA [J].

BREMER, S ;

HOOF, T ;

WILKE, M ;

BUSCHE, R ;

SCHOLTE, B ;

RIORDAN, JR ;

MAASS, G ;

TUMMLER, B .

EUROPEAN JOURNAL OF BIOCHEMISTRY, 1992, 206 (01) :137-149

[7] LYMPHOCYTE MESSENGER-RNA AS A RESOURCE FOR DETECTION OF MUTATIONS AND POLYMORPHISMS IN THE CF GENE [J].

CHALKLEY, G ;

HARRIS, A .

JOURNAL OF MEDICAL GENETICS, 1991, 28 (11) :777-780

[8]

CHAN D, 1991, J BIOL CHEM, V266, P12487

[9] ILLEGITIMATE (OR ECTOPIC) TRANSCRIPTION PROCEEDS THROUGH THE USUAL PROMOTERS [J].

CHELLY, J ;

HUGNOT, JP ;

CONCORDET, JP ;

KAPLAN, JC ;

KAHN, A .

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1991, 178 (02) :553-557

[10] ILLEGITIMATE TRANSCRIPTION - APPLICATION TO THE ANALYSIS OF TRUNCATED TRANSCRIPTS OF THE DYSTROPHIN GENE IN NONMUSCLE CULTURED-CELLS FROM DUCHENNE AND BECKER PATIENTS [J].

CHELLY, J ;

GILGENKRANTZ, H ;

HUGNOT, JP ;

HAMARD, G ;

LAMBERT, M ;

RECAN, D ;

AKLI, S ;

COMETTO, M ;

KAHN, A ;

KAPLAN, JC .

JOURNAL OF CLINICAL INVESTIGATION, 1991, 88 (04) :1161-1166

← 1 2 3 4 5 6 →