Reduction of fragile X expression in blood after cryopreservation

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 th...

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Bibliographic Details
Published inAmerican journal of medical genetics Vol. 21; no. 4; p. 771
Main Authors Shimanuki, K, Lin, M S, Wilson, M G
Format Journal Article
LanguageEnglish
Published United States 01.08.1985
Subjects
Female
Fibroblasts - pathology
Fragile X Syndrome - genetics
Fragile X Syndrome - pathology
Freezing
Gene Expression Regulation
Heterozygote
Humans
Lymphocytes - pathology
Male
Preservation, Biological
Sex Chromosome Aberrations - pathology
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Summary: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.
ISSN:0148-7299
DOI:10.1002/ajmg.1320210421