LENGTH OF UNINTERRUPTED CGG REPEATS DETERMINES INSTABILITY IN THE FMR1 GENE

被引：418

作者：

EICHLER, EE

HOLDEN, JJA

POPOVICH, BW

REISS, AL

SNOW, K

THIBODEAU, SN

RICHARDS, CS

WARD, PA

NELSON, DL

机构：

[1] BAYLOR COLL MED,CTR HUMAN GENOME,DEPT MOLEC & HUMAN GENET,HOUSTON,TX 77030

[2] QUEENS UNIV,DEPT PSYCHIAT,KINGSTON K7L 3N6,ON,CANADA

[3] ONGWANADA RESOURCE CTR,CYTOGENET & DNA RES LAB,KINGSTON K7L 3N6,ON,CANADA

[4] OREGON HLTH SCI UNIV,DEPT MED & MOLEC GENET,PORTLAND,OR 97201

[5] JOHNS HOPKINS UNIV,SCH MED,DEPT PSYCHIAT,BALTIMORE,MD 21205

[6] JOHNS HOPKINS UNIV,SCH MED,DEPT PEDIAT,BALTIMORE,MD 21205

[7] MAYO CLIN & MAYO FDN,GENET LAB,ROCHESTER,MN 55905

[8] JOHNS HOPKINS UNIV,SCH MED,KENNEDY KRIEGER INST,BALTIMORE,MD 21205

来源：

NATURE GENETICS | 1994年 / 8卷 / 01期

关键词：

D O I：

10.1038/ng0994-88

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Analysis of 84 human X chromosomes for the presence of interrupting AGG trinucleotides within the CGG repeat tract of the FMR1 gene revealed that most alleles possess two interspersed AGGs and that the longest tract of uninterrupted CGG repeats is usually found at the 3' end. Variation in the length of the repeat appears polar. Alleles containing between 34 and 55 repeats, with documented unstable transmissions, were shown to have lost one or both AGG interruptions. These comparisons define an instability threshold of 34-38 uninterrupted CGG repeats. Analysis of premutation alleles in Fragile X syndrome carriers reveals that 70% of these alleles contain a single AGG interruption. These data suggest that the loss of an AGG is an important mutational event in the generation of unstable alleles predisposed to the Fragile X syndrome.

引用

页码：88 / 94

页数：7

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