Article
Loss of mutation at the FMR1 locus through multiple exchanges between maternal X chromosomes.
Human molecular genetics - 1 Oct 1994
van den Ouweland A M, Deelen W H, Kunst C B, Uzielli M L, Nelson D L, Warren S T, Oostra B A, Halley D J
Abstract excerpt
The mutation observed in the fragile X syndrome, an X-linked inherited disorder causing mental retardation, is almost exclusively an expanded CGG repeat in the first exon of the FMR1 gene. Here we describe a daughter of a female carrier, who inherited the fragile X premutation chromosome based on haplotype analysis using flanking markers. However, the CGG repeat sequence and the intragenic polymorphic marker FMRb...
Topics
- Base Sequence
- DNA Primers
- DNA, Satellite
- Exons
- Female
- Fragile X Mental Retardation Protein
- Fragile X Syndrome
- Genetic Carrier Screening
- Genetic Markers
- Humans
- Leukocytes