title: Reduction of fragile X expression in blood after cryopreservation.
abstract: Frequency of fragile X expression was investigated before and after cryopreservation (-196 degrees C) in the blood of 4 affected males, 3 fragile X carriers and in a fibroblast cell strain from a fragile X male fetus. The results indicate that there is a significant decrease (p less than 0.05) in the frequency of the fragile X expression in lymphocytes after cryopreservation, as compared to the fresh blood, but not in fibroblasts. This suggests that cryopreserved blood specimens may not be suitable for fragile X analysis.
mesh_terms: D005260:Female; D005347:Fibroblasts / Q000473:pathology; D005600:Fragile X Syndrome / Q000235:genetics / Q000473:pathology*; D005615:Freezing; D005786:Gene Expression Regulation; D006579:Heterozygote; D006801:Humans; D008214:Lymphocytes / Q000473:pathology; D008297:Male; D011309:Preservation, Biological; D012729:Sex Chromosome Aberrations / Q000473:pathology*