Title
The full mutation in the fmr-1 gene of male fragile-x patients is absent in their sperm The full mutation in the fmr-1 gene of male fragile-x patients is absent in their sperm
Author
Publication type
article
Publication
New York, N.Y. ,
Subject
Human medicine
Source (journal)
Nature genetics. - New York, N.Y.
Volume/pages
4() :2 , p. 143-146
ISSN
1061-4036
ISI
A1993LF81600013
Carrier
E
Target language
English (eng)
Full text (Publishers DOI)
Abstract
Fragile X syndrome is characterized at the molecular level by amplification of a (CGG)n repeat and hypermethylation of a CpG island preceeding the open reading frame of the fragile X gene (FMR-1) located in Xq27.3. Anticipation in this syndrome is associated with progressive amplification of the (CGG)n repeat from a premutation to a full mutation through consecutive generations. Remarkably, expansion of the premutation to the full mutation is strictly maternal. To clarify this parental influence we studied FMR-1 in sperm of four male fragile X patients. This showed that only the premutation was present in their sperm, although they had a full mutation in peripheral lymphocytes. This might suggest that expansion of the premutation to the full mutation in FMR-1 does not occur in meiosis but in a postzygotic stage.
E-info
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