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.

Induction of the fra(X) in amniotic fluid cells by excess thymidine

“…The possibility exists that freezing/thawing the cells could have effected the subsequent expression of the fra(X). Shimanuki et al [1985] observed a reduction of fra(X) expression in blood, but not in fibroblasts following freezing/thawing. The data obtained from cases 51 1-84A and 198-85A do not support a consistent reduction of fra(X) expression in amniotic fluid cells following freezing.…”

Expression of fragile X in human-mouse somatic cell hybrids

“…1979). tissue specificity (Brookwell ct al., 1982; Marchese et al, 1984), and duration of blood storage (Jacobs et al, 1980;Fonatsch and Schwinger, 1983;Shimanuki et al, 1985). However, Eberle et al (1982b) reported that under the same culture and preparation techniques, fragile X expression in a given individual was constant, whereas large differences in the frequency of fragile X expression were observed between brothers.…”