Fragile X Genotype Characterized by an Unstable Region of DNA

Shuancang Yu(Women's and Children's Hospital), Melanie Pritchard(Women's and Children's Hospital), Eric J. Kremer(Women's and Children's Hospital), Michael Lynch(Women's and Children's Hospital), J.K. Nancarrow(Women's and Children's Hospital), Elizabeth Baker(Women's and Children's Hospital), K. Holman(Women's and Children's Hospital), John C. Mulley(Women's and Children's Hospital), Stephen T. Warren(Emory University), David Schlessinger(Washington University in St. Louis), G.R. Sutherland(Women's and Children's Hospital), Robert I. Richards(Women's and Children's Hospital)
Science
May 24, 1991
10.1126/science.252.5009.1179
Cited by 799

Abstract

DNA sequences have been located at the fragile X site by in situ hybridization and by the mapping of breakpoints in two somatic cell hybrids that were constructed to break at the fragile site. These hybrids were found to have breakpoints in a common 5-kilobase Eco RI restriction fragment. When this fragment was used as a probe on the chromosomal DNA of normal and fragile X genotype individuals, alterations in the mobility of the sequences detected by the probe were found only in fragile X genotype DNA. These sequences were of an increased size in all fragile X individuals and varied within families, indicating that the region was unstable. This probe provides a means with which to analyze fragile X pedigrees and is a diagnostic reagent for the fragile X genotype.

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