Welcome to IVF
Welcome to IVF
Welcome to IVF
-Cytogenetic and Molecular Analysis of the Fragile X Syndrome.
Fragile-X syndrome is a genetic condition mainly leading to mental retardation in males. It is caused by a fragile site at the tip of the long arm of the X chromosome, which is demonstrable on karyotyping using special tissue culture media. However, cytogenetic methods are not very reliable for Fragile X detection, compared to molecular techniques. Molecular studies have shown the presence of an increasing number of CGG trinucleotide repeats in every generation. A carrier mother may have 60-200 repeats and an affected son will have >200 repeats in the FMR-1 gene. Southern blotting with radioactive detection and PCR are used for molecular diagnosis. There is hardly any data on Fragile X patients from western India. The aim of this study is to try and develop a non-radioactive molecular method for detection of Fragile X, using Silver staining detection for PCR analysis and chemiluminescence detection for Southern hybridization. Children from special schools will be studied to identify families at risk of transmitting this condition and offer prenatal diagnosis to prevent the birth of other affected children.