Sidek, Mohamad Ros
(2006)
Analisis Genetik Molekul Pesakit Sindrom Fragile X Di Hospital Universiti Sains Malaysia (HUSM)[RJ506.F73 R788 2006 f rb].
Masters thesis, Universiti Sains Malaysia.
Abstract
Sindrom Fragile X merupakan salah satu penyakit pewarisan yang paling kerap menyebabkan keadaan kerencatan akal. Penyakit ini berlaku disebabkan oleh peningkatan jujukan trinukleotida ulangan (CGG) yang terletak dalam kawasan 5’
UTR gen FMR1 dan mengakibatkan perencatan fungsi gen ini.
Fragile X syndrome is one of the most common inherited genetic disorders that cause mental retardation. This disease results from the expansion of a trinucleotide repeat
(CGG)n sequences, located in the 5' UTR of FMR1 gene, that further inactivate the normal function of this gene.
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