Localization of trinucleotide repeat sequences in myotonic dystrophy cells using a single fluorochrome-labeled PNA probe

被引：41

作者：

Taneja, KL ^{[1
]}

机构：

[1] Univ Massachusetts, Med Ctr, Worcester, MA USA

来源：

BIOTECHNIQUES | 1998年 / 24卷 / 03期

关键词：

D O I：

10.2144/98243rr02

中图分类号：

Q5 [生物化学];

学科分类号：

071010 ; 081704 ;

摘要：

A labeled peptide nucleic acid (PNA) antisense probe was used to study the spatial distribution of triplet repeats (CTG) in human myotonic dystrophy (DM) cells by high-resolution fluorescence in situ hybridization (FISH). It was found that transcripts containing triplet repents were present as a number of discrete foci in the DM nuclei. Greater numbers of foci were visible with the PNA probe than a comparable DNA probe. The PNA probe was also used to visualize the triplet-repeat expansion within the DM gene located on chromosome 19. Using the intensity of the expanded triplet-repeat on the chromosomes as a reference, it was estimated there were between 15-230 RNA molecules in each focus observed in DM nuclei.

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页码：472 / 476

页数：5

相关论文

共 22 条

[1] ISOLATION OF ACTIVE GENES CONTAINING CAG REPEATS BY DNA STRAND INVASION BY A PEPTIDE NUCLEIC-ACID [J].

BOFFA, LC ;

CARPANETO, EM ;

ALLFREY, VG .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1995, 92 (06) :1901-1905

[2] MOLECULAR-BASIS OF MYOTONIC-DYSTROPHY - EXPANSION OF A TRINUCLEOTIDE (CTG) REPEAT AT THE 3' END OF A TRANSCRIPT ENCODING A PROTEIN-KINASE FAMILY MEMBER [J].

BROOK, JD ;

MCCURRACH, ME ;

HARLEY, HG ;

BUCKLER, AJ ;

CHURCH, D ;

ABURATANI, H ;

HUNTER, K ;

STANTON, VP ;

THIRION, JP ;

HUDSON, T ;

SOHN, R ;

ZEMELMAN, B ;

SNELL, RG ;

RUNDLE, SA ;

CROW, S ;

DAVIES, J ;

SHELBOURNE, P ;

BUXTON, J ;

JONES, C ;

JUVONEN, V ;

JOHNSON, K ;

HARPER, PS ;

SHAW, DJ ;

HOUSMAN, DE .

CELL, 1992, 68 (04) :799-808

[3] PNA HYBRIDIZES TO COMPLEMENTARY OLIGONUCLEOTIDES OBEYING THE WATSON-CRICK HYDROGEN-BONDING RULES [J].

EGHOLM, M ;

BUCHARDT, O ;

CHRISTENSEN, L ;

BEHRENS, C ;

FREIER, SM ;

DRIVER, DA ;

BERG, RH ;

KIM, SK ;

NORDEN, B ;

NIELSEN, PE .

NATURE, 1993, 365 (6446) :566-568

[4] AN UNSTABLE TRIPLET REPEAT IN A GENE RELATED TO MYOTONIC MUSCULAR-DYSTROPHY [J].

FU, YH ;

PIZZUTI, A ;

FENWICK, RG ;

KING, J ;

RAJNARAYAN, S ;

DUNNE, PW ;

DUBEL, J ;

NASSER, GA ;

ASHIZAWA, T ;

DEJONG, P ;

WIERINGA, B ;

KORNELUK, R ;

PERRYMAN, MB ;

EPSTEIN, HF ;

CASKEY, CT .

SCIENCE, 1992, 255 (5049) :1256-1258

[5] Chromosomal localization of long trinucleotide repeats in the human genome by fluorescence in situ hybridization [J].

Haaf, T ;

Sirugo, G ;

Kidd, KK ;

Ward, DC .

NATURE GENETICS, 1996, 12 (02) :183-185

[6] TRINUCLEOTIDE REPEAT EXPANSION AND HUMAN-DISEASE [J].

HUMMERICH, H ;

LEHRACH, H .

ELECTROPHORESIS, 1995, 16 (09) :1698-1704

[7] THE CORRELATION OF AGE OF ONSET WITH CTG TRINUCLEOTIDE REPEAT AMPLIFICATION IN MYOTONIC-DYSTROPHY [J].

HUNTER, A ;

TSILFIDIS, C ;

METTLER, G ;

JACOB, P ;

MAHADEVAN, M ;

SURH, L ;

KORNELUK, R .

JOURNAL OF MEDICAL GENETICS, 1992, 29 (11) :774-779

[8]

JOHNSON K, 1990, AM J HUM GENET, V46, P1073

[9] Heterogeneity in telomere length of human chromosomes [J].

Lansdorp, PM ;

Verwoerd, NP ;

vandeRijke, FM ;

Dragowska, V ;

Little, MT ;

Dirks, RW ;

Raap, AL ;

Tanke, HJ .

HUMAN MOLECULAR GENETICS, 1996, 5 (05) :685-691

[10] TRINUCLEOTIDE REPEAT EXPANSION IN NEUROLOGICAL DISEASE [J].

LASPADA, AR ;

PAULSON, HL ;

FISCHBECK, KH .

ANNALS OF NEUROLOGY, 1994, 36 (06) :814-822