MITOTIC STABILITY OF FRAGILE-X MUTATIONS IN DIFFERENTIATED CELLS INDICATES EARLY POSTCONCEPTIONAL TRINUCLEOTIDE REPEAT EXPANSION

被引：157

作者：

WOHRLE, D ^{[1
]}

HENNIG, I ^{[1
]}

VOGEL, W ^{[1
]}

STEINBACH, P ^{[1
]}

机构：

[1] UNIV ULM,KLIN GENET ABT,PARKSTR 11,W-7900 ULM,GERMANY

来源：

NATURE GENETICS | 1993年 / 4卷 / 02期

关键词：

D O I：

10.1038/ng0693-140

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We demonstrate here that somatic variation of CGG repeat length is based on a mosaic of cells with different but stable FMR-1 alleles and does not reflect permanent mitotic instability. The length of a particular allele in an individual cell was maintained in progeny cells establishing a clone. The mutation patterns of multiple repeats in the DNA of fetal tissues were identical and did not significantly change during proliferation in vitro. It is proposed that genotype mosaicism and expansion to full mutation are generated postconceptionally by the same molecular mechanism in a particular window of early development.

引用

页码：140 / 142

页数：3

共 23 条

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