Article
Use of methylation sensitive polymerase chain reaction for detection of fragile X full mutation & carrier state in males.
The Indian journal of medical research - 1 Nov 2005
Karunasagar Anusha, Pandit Lekha, Kumar Sanath, Karunasagar Indrani, Karunasagar Iddya
Abstract excerpt
BACKGROUND & OBJECTIVE: Fragile X syndrome is the most common cause of inherited mental retardation. It is characterized by the progressive expansion of polymorphic (CGG) trinucleotide repeats located in the promoter region of the FMRI gene located at Xq27.3. The typical dysmorphic features that help in diagnosis are very often subtle or absent especially in pre-pubertal children. Confirmation is by molecular...
Topics
- Blotting, Southern
- Child
- Child, Preschool
- DNA Methylation
- DNA Primers
- Evaluation Studies as Topic
- Fragile X Mental Retardation Protein
- Genetic Carrier Screening
- Humans
- Male
- Mutation
- Polymerase Chain Reaction
- Trinucleotide Repeat Expansion