|
|
|
|
In fragile X syndrome,the most common inherited cause of mental deficiency,the underlying mutation is a large increase in the number of CGG repeats in a gene on chromosome X.We have developed a polymerase chain reaction(PCR)method to amplify across the full mutation in affected individuals.In this report,a fragile X family including a positive prenatally diagnosed fetus was analysed by PCR,and the results are consistent with direct genomic southern blot analysis.Genetic screening of at-risk populations for fragile X can now be achieved by PCR rapidly, inexpensively,and on small samples. |
|