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

[21] ECTOPIC TRANSCRIPTION OF THE PARATHYROID-HORMONE GENE IN LYMPHOCYTES, LYMPHOBLASTOID-CELLS AND TUMOR-TISSUE [J].

HANDT, O ;

REIS, A ;

SCHMIDTKE, J .

JOURNAL OF ENDOCRINOLOGY, 1992, 135 (02) :249-256

[22] ENZYMATIC AMPLIFICATION OF MYOSIN HEAVY-CHAIN MESSENGER-RNA SEQUENCES INVITRO [J].

HARBARTH, P ;

VOSBERG, HP .

DNA-A JOURNAL OF MOLECULAR & CELLULAR BIOLOGY, 1988, 7 (04) :297-306

[23] MOLECULAR CHARACTERIZATION OF SEVERE HEMOPHILIA-A SUGGESTS THAT ABOUT HALF THE MUTATIONS ARE NOT WITHIN THE CODING REGIONS AND SPLICE JUNCTIONS OF THE FACTOR-VIII GENE [J].

HIGUCHI, M ;

KAZAZIAN, HH ;

KASCH, L ;

WARREN, TC ;

MCGINNISS, MJ ;

PHILLIPS, JA ;

KASPER, C ;

JANCO, R ;

ANTONARAKIS, SE .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1991, 88 (16) :7405-7409

[24] CORRELATION OF CLINICAL AND DELETION DATA IN DUCHENNE AND BECKER MUSCULAR-DYSTROPHY [J].

HODGSON, S ;

HART, K ;

ABBS, S ;

HECKMATT, J ;

RODILLO, E ;

BOBROW, M ;

DUBOWITZ, V .

JOURNAL OF MEDICAL GENETICS, 1989, 26 (11) :682-693

[25]

Kaplan Jean-Claude, 1992, Human Mutation, V1, P357, DOI 10.1002/humu.1380010502

[26] ADENOSINE-DEAMINASE DEFICIENCY DUE TO HETEROZYGOUS ABNORMALITY CONSISTING OF A DELETION OF EXON-7 AND THE ABSENCE OF ENZYME MESSENGER-RNA [J].

KASHII, S ;

ITO, K ;

MONDEN, S ;

SASAI, Y ;

TSUCHIDA, K ;

FUJITA, M ;

KAWAMOTO, H ;

NORIOKA, M ;

OKUMA, M .

JOURNAL OF CELLULAR BIOCHEMISTRY, 1991, 47 (01) :49-53

[27]

KATAYDJIEVA L, 1991, J MED GENET, V28, P807

[28] THE RELATION BETWEEN GENOTYPE AND PHENOTYPE IN CYSTIC-FIBROSIS - ANALYSIS OF THE MOST COMMON MUTATION (DELTA-F508) [J].

KEREM, E ;

COREY, M ;

KEREM, BS ;

ROMMENS, J ;

MARKIEWICZ, D ;

LEVISON, H ;

TSUI, LC ;

DURIE, P .

NEW ENGLAND JOURNAL OF MEDICINE, 1990, 323 (22) :1517-1522

[29] ANTI-MULLERIAN HORMONE BRUXELLES - A NONSENSE MUTATION ASSOCIATED WITH THE PERSISTENT MULLERIAN DUCT SYNDROME [J].

KNEBELMANN, B ;

BOUSSIN, L ;

GUERRIER, D ;

LEGEAI, L ;

KAHN, A ;

JOSSO, N ;

PICARD, JY .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1991, 88 (09) :3767-3771

[30] AN IMPROVED METHOD FOR PRENATAL-DIAGNOSIS OF GENETIC-DISEASES BY ANALYSIS OF AMPLIFIED DNA-SEQUENCES - APPLICATION TO HEMOPHILIA-A [J].

KOGAN, SC ;

DOHERTY, M ;

GITSCHIER, J .

NEW ENGLAND JOURNAL OF MEDICINE, 1987, 317 (16) :985-990

← 1 2 3 4 5 6 →