The fragile X syndrome: no evidence for any recent mutations.

doi:10.1136/jmg.30.2.94

Article

The fragile X syndrome: no evidence for any recent mutations.

Journal of medical genetics - 1 Feb 1993

Smits A P, Dreesen J C, Post J G, Smeets D F, de Die-Smulders C, Spaans-van der Bijl T, Govaerts L C, Warren S T, Oostra B A, van Oost B A

Abstract excerpt

Fragile X (fra(X)) syndrome, the most common form of familial mental retardation, is caused by heritable unstable DNA composed of CGG repeats. As reproductive fitness of fra(X) patients is severely compromised, a high mutation rate has been proposed to explain the high prevalence. However, we hav...

Topics

DNA Mutational Analysis
Female
Fragile X Syndrome
Genetic Carrier Screening
Genetic Markers
Humans
Linkage Disequilibrium
Male
Pedigree
Phenotype
Repetitive Sequences, Nucleic Acid

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