Intragenic probe used for diagnostics in fragile X families

A. J.M.H. Verkerk, B. B.A. DeVries, M. F. Niermeijer, Y. H. Fu, D. L. Nelson, S. T. Warren, D. F. Majoor-Krakauer, D. J.J. Halley, B. A. Oostra*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

10 Citations (Scopus)

Abstract

The intragenic (FMR-1) probe pE5.1 was used for DNA analysis in fragile X families. With this probe fragments of altered size can be detected in female carriers, affected individuals and transmitting males. The length of the altered fragments was found to vary from one generation to another as well as between sibs. This instability of the DNA detected by pE5.1 was also seen in peripheral blood within single individuals. These phenomena are illustrated by 4 exemplary families segregating the fragile X syndrome. We demonstrate the diagnostic contribution of intragenic analysis to carrier detection as well as the identification of normal transmitting males carrying premutations. One of the families illustrates the passage of a premutation to a male through 2 generations.

Original languageEnglish
Pages (from-to)192-196
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume43
Issue number1-2
DOIs
Publication statusPublished - 15 Apr 1992

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