CONSERVATION OF CGG REGION IN FMR1 GENE IN MAMMALS

被引：22

作者：

DEELEN, W ^{[1
]}

BAKKER, C ^{[1
]}

HALLEY, DJJ ^{[1
]}

OOSTRA, BA ^{[1
]}

机构：

[1] ERASMUS UNIV ROTTERDAM,DEPT CLIN GENET,3000 DR ROTTERDAM,NETHERLANDS

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1994年 / 51卷 / 04期

关键词：

FRAGILE X SYNDROME; FMR1; CGG REPEAT; EVOLUTIONARY CONSERVATION; FRAGILE SITES; PCR AMPLIFICATION;

D O I：

10.1002/ajmg.1320510445

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Only two of the fragile sites found in humans (FRAXA and FRAXE) have been associated with a clinical phenotype. In mentally retarded individuals with cytogenetic expression of FRAXA a CGG repeat in the FMR1 gene is amplified. Fragile sites are found in many animal species. We have analyzed the FRAXA region containing the CGG repeat in several different species by PCR amplification. In most mammals this region could be amplified; the number of copies of the repeat is deduced. (c) 1994 Wiley-Liss,Inc.

引用

页码：513 / 516

页数：4

共 21 条

[1] HUMAN AND MURINE FMR-1 - ALTERNATIVE SPLICING AND TRANSLATIONAL INITIATION DOWNSTREAM OF THE CGG-REPEAT [J].

ASHLEY, CT ;

SUTCLIFFE, JS ;

KUNST, CB ;

LEINER, HA ;

EICHLER, EE ;

NELSON, DL ;

WARREN, ST .

NATURE GENETICS, 1993, 4 (03) :244-251

[2]

BOUVET A, 1991, CYTOGENET CELL GENET, V58, P2054

[3] VARIATION OF THE CGG REPEAT AT THE FRAGILE-X SITE RESULTS IN GENETIC INSTABILITY - RESOLUTION OF THE SHERMAN PARADOX [J].

FU, YH ;

KUHL, DPA ;

PIZZUTI, A ;

PIERETTI, M ;

SUTCLIFFE, JS ;

RICHARDS, S ;

VERKERK, AJMH ;

HOLDEN, JJA ;

FENWICK, RG ;

WARREN, ST ;

OOSTRA, BA ;

NELSON, DL ;

CASKEY, CT .

CELL, 1991, 67 (06) :1047-1058

[4] METHYLATION ANALYSIS OF CGG SITES IN THE CPG ISLAND OF THE HUMAN FMR1 GENE [J].

HANSEN, RS ;

GARTLER, SM ;

SCOTT, CR ;

CHEN, SH ;

LAIRD, CD .

HUMAN MOLECULAR GENETICS, 1992, 1 (08) :571-578

[5] A GUIDE TO FRAGILE SITES ON HUMAN-CHROMOSOMES [J].

HECHT, F ;

RAMESH, KH ;

LOCKWOOD, DH .

CANCER GENETICS AND CYTOGENETICS, 1990, 44 (01) :37-45

[6] TRINUCLEOTIDE REPEAT AMPLIFICATION AND HYPERMETHYLATION OF A CPG ISLAND IN FRAXE MENTAL-RETARDATION [J].

KNIGHT, SJL ;

FLANNERY, AV ;

HIRST, MC ;

CAMPBELL, L ;

CHRISTODOULOU, Z ;

PHELPS, SR ;

POINTON, J ;

MIDDLETONPRICE, HR ;

BARNICOAT, A ;

PEMBREY, ME ;

HOLLAND, J ;

OOSTRA, BA ;

BOBROW, M ;

DAVIES, KE .

CELL, 1993, 74 (01) :127-134

[7] MAPPING OF DNA INSTABILITY AT THE FRAGILE-X TO A TRINUCLEOTIDE REPEAT SEQUENCE P(CCG)N [J].

KREMER, EJ ;

PRITCHARD, M ;

LYNCH, M ;

YU, S ;

HOLMAN, K ;

BAKER, E ;

WARREN, ST ;

SCHLESSINGER, D ;

SUTHERLAND, GR ;

RICHARDS, RI .

SCIENCE, 1991, 252 (5013) :1711-1714

[8] GUIDELINES FOR THE DIAGNOSIS OF FRAGILE-X SYNDROME [J].

OOSTRA, BA ;

JACKY, PB ;

BROWN, WT ;

ROUSSEAU, F .

JOURNAL OF MEDICAL GENETICS, 1993, 30 (05) :410-413

[9] HIGH-RESOLUTION R-BANDING AND LOCALIZATION OF FRAGILE SITES IN ORYCTOLAGUS-CUNICULUS [J].

POULSEN, BS ;

RONNE, M .

GENETICS SELECTION EVOLUTION, 1991, 23 :S183-S186

[10] FRAGILE-X SYNDROME UNSTABLE ELEMENT, P(CCG)N, AND OTHER SIMPLE TANDEM REPEAT SEQUENCES ARE BINDING-SITES FOR SPECIFIC NUCLEAR PROTEINS [J].

RICHARDS, RI ;

HOLMAN, K ;

YU, S ;

SUTHERLAND, GR .

HUMAN MOLECULAR GENETICS, 1993, 2 (09) :1429-1435

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