[DNA diagnosis of the fragile X chromosome syndrome--FRAXA using PCR].

Article

[DNA diagnosis of the fragile X chromosome syndrome--FRAXA using PCR].

Casopis lekaru ceskych - 12 Jan 1998

Bóday A, Mat'oska V, Konrádová V, Havlovicová M, Musová Z, Krejcová S, Seemanová E

Abstract excerpt

BACKGROUND: Fragile X syndrome is gonosomal recessive mental retardation with the frequency 1:1000 in male population. Fragile X syndrome is caused by amplification of CGG repeat in 1. exon of FMT-1 gene. The aim of this study was to set up and validate a rapid and efficient PCR diagnosis to sele...

Topics

Chromosome Fragility
DNA
Female
Fragile X Syndrome
Humans
Male
Mutation
Polymerase Chain Reaction

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