Use of methylation sensitive polymerase chain reaction for detection of fragile X full mutation & carrier state in males.

@article{Karunasagar2005UseOM,
  title={Use of methylation sensitive polymerase chain reaction for detection of fragile X full mutation & carrier state in males.},
  author={Anusha Karunasagar and Lekha Pandit and S. Himagirish Kumar and I Karunasagar and Iddya Karunasagar},
  journal={The Indian journal of medical research},
  year={2005},
  volume={122 5},
  pages={429-33}
}
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 diagnosis based on repeat size and methylation analysis of the FMR1 gene. The present… CONTINUE READING

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