Genotype prediction in the fragile X syndrome.

Genotype prediction in the fragile X syndrome.

Fragile X positive, mentally retarded males have been shown to have an insertion or amplification of DNA sequences at, or close to, the site of expression of the fragile site. We show here the application of the detection of such changes to the diagnosis of affected males and female carriers and the identification of normal transmitting males. One fragile X negative male with the clinical featu...

The fragile X syndrome.

We have begun to appreciate that the extent of this disorder is much wider than merely mental retardation. It is also a common cause of learning and emotional problems in mildly affected female carriers with normal IQs. These children present an enormous challenge to all child-care providers, be they in medicine, education, or in various therapy disciplines. Early identification is essential, a...

Fragile X syndrome.

Fragile X syndrome

Fragile X syndrome occurs as a result of a mutation of the fragile X mental retardation 1 (FMR1) gene on the bottom of the X chromosome (Pic. 1), which encodes fragile X mental retardation protein (FMRP). This protein, most commonly found in the brain, is essential for normal cognitive development and female reproductive function. The CGG triplet that means gene segment consisting of a cytosine...

Fragile X Syndrome

groups with asthma. Thus the scientist must weigh the advantages of performing genetic studies in small, historically isolated populations with the potential disadvantage of being unable to eventually generalize the studies’ results. SEE ALSO Genetic Drift; Hardy-Weinberg Equilibrium; Inbreeding; Linkage and Recombination; Mapping; Population Bottleneck; Population Genetics; Tay-Sachs Disease.