Detection of full fragile X mutation.
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.
Department of Research, North Shore University Hospital, Cornell University Medical College, Manhasset, NY.
R G
RG
Pergolizzi
S H
SH
Erster
P
P
Goonewardena
W T
WT
Brown
D000595:Amino Acid Sequence; D004247:DNA / Q000032:analysis*; D005260:Female; D005600:Fragile X Syndrome / Q000235:genetics*; D006580:Genetic Carrier Screening / Q000379:methods; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction / Q000379:methods; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods
D004247:DNA