Polymerase chain reaction analysis as a rapid screening test for diagnosis of fragile X syndrome

• Main Authors: Phan CL,, Zubaidah Z,, Gregory A.R.A,, Kamariah MN,, Ten SK,, Maimonah R,, Thilagavathi S,
• Format: Article
• Language: English
• Published: Penerbit UKM 2006
• Online Access: http://journalarticle.ukm.my/1854/1/07._36-44_%28MH_013%29.pdf; http://journalarticle.ukm.my/1854/; http://www.ppukm.ukm.my/ukmmcjournal/index.php

Fragile X syndrome is a result of an unstable expansion of (CGG)n trinucleotide sequences in the FMR-1 (Fragile X Mental Retardation 1) gene site at Xq27. In a normal person, n ranges from 6 to 40 repeats with an average of 30 repeats, whereas in a mutated FMR1 gene the sequence is repeated several...