True about Fragile X syndrome is-
Solutions: Majority of female carriers of FRAGILE X SYNDROME are mentally normal, 1 in 3 female carriers have some evidence of mental impairment and about 1 in 10 are considered mentally retarded I.e. 10% females are mentally retarded. Mean IQ in males with full mutation (>200 repeats) is 42 Fragile X syndrome Trinucleotide repeat mutation in familial mental retardation -1 (FMR1) gene Second most common genetic cause of mental retardation after Down Syndrome Genetic basis Normal population : 29-55 CGG repeats Carriers: pre-mutatins 55-200 CGG repeats Full mutation (Fragile X syndr): 4000 repeats
Triple nucleotide CAG Sequence mutation
10% Female carriers mentally retarded
Males have IQ 20-40
Gain of function mutation
NEET 2019