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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Accelerated prenatal diagnosis of fragile X syndrome by polymerase chain reaction restriction fragment detection.

Prenatal diagnosis of fragile X syndrome requires detection of the full FMR1 mutation in chorionic villus or amniotic fluid cell samples. Although analysis of genomic DNA restriction fragment pattern is a highly reliable technique for identification of the full FMR1 mutation, standard Southern blot determination of this pattern requires significantly more genomic DNA than is initially available from a prenatal sample. To overcome this limitation we developed a method that determines the diagnostic pattern of genomic restriction fragments from a fraction of a prenatal specimen. The prenatal DNA sample is first digested with EcoRI and EagI, and after agarose gel electrophoresis, the 2- to 10-kb region of the gel is serially sectioned and amplified by polymerase chain reaction. Analysis of prenatal samples from an unaffected male and from a full mutation male showed that this approach generated a diagnostic pattern comparable with a Southern blot of 100-fold more material. This innovation enables laboratories to prenatally diagnose the full FMR1 mutation sooner than standard techniques.[1]

References

  1. Accelerated prenatal diagnosis of fragile X syndrome by polymerase chain reaction restriction fragment detection. Dobkin, C., Ding, X., Li, S., Houck, G., Nolin, S.L., Glicksman, A., Zhong, N., Jenkins, E.C., Brown, W.T. Am. J. Med. Genet. (1999) [Pubmed]
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