Analysis of the fragile x syndrome
Fragile-x syndrome is a genetic disorder that affects the development and learning capabilities of an individual it is also called as marker-x syndrome and martin-bell syndrome fragile-x syndrome causes trinucleotide repeat in fragile-x mental retardation 1(fmr-1) gene present on x chromosome. · background: the fragile x syndrome, the most common form of inherited mental retardation, is caused by mutations that increase the size of a specific dna fragment of the x chromosome (in xq273) affected persons have both a full mutation and abnormal dna methylation. Nearly all cases of fragile x syndrome are caused by a mutation in which a dna segment, known as the cgg triplet repeat, is expanded within the fmr1 gene normally, this dna segment is repeated from 5 to about 40 times in people with fragile x syndrome, however, the cgg segment is repeated more than 200 times. How can the answer be improved.
The major cause for the fragile x syndrome is due to the mutation in one single gene called the fragile x mental retardation 1 (fmr1) gene which is the precursor for the fragile x mental retardation protein fmrp this protein is responsible for the normal development and functioning of the brain.
Read data highlights about fragile x syndrome data & statistics functional skills of individuals with fragile x syndrome: a lifespan cross-sectional analysis. The x chromosome is one of two types of sex chromosomes the other is the y chromosome women have two x chromosomes while men have one x chromosome.
Where is the fmr1 gene located the fmr1 gene is located on the x chromosome we all have 46 chromosomes in all of our cells, 44 of which are numbered 1-22 in pairs. Fragile x syndrome (omim 309550) is the most common known form of inherited mental retardation, affecting 16 to 25 of 100,000 males prevalence among females is approximately half what is reported for males in almost every case the disorder arises from an expansion of a cgg repeat polymorphism in the 5′ untranslated region of the.
Mental retardation and developmental disabilities research reviews 1:245-250 (1995) analysis of fmrp, the protein deficient in fragile x syndrome.
Fmr1, triuncleotide, chromosome x, fragile x - analysis of the fragile x syndrome. The fragile x syndrome, the most common form of inherited mental retardation, is caused by mutations that increase the size of a specific dna fragment of the x chromosome (in xq273) affected persons have both a full mutation and abnormal dna methylation.