冷冻保存后血液中脆性X表达的降低。

Reduction of fragile X expression in blood after cryopreservation.

作者信息

Shimanuki K, Lin M S, Wilson M G

出版信息

Am J Med Genet. 1985 Aug;21(4):771-5. doi: 10.1002/ajmg.1320210421.

DOI:10.1002/ajmg.1320210421

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.

摘要

在4名患病男性、3名脆性X携带者的血液以及一名脆性X男性胎儿的成纤维细胞系中，研究了冷冻保存（-196摄氏度）前后脆性X表达的频率。结果表明，与新鲜血液相比，冷冻保存后淋巴细胞中脆性X表达的频率显著降低（p<0.05），但成纤维细胞中没有。这表明冷冻保存的血液标本可能不适合进行脆性X分析。