意大利岩藻糖苷贮积症患者中mRNA表达的异质性。

Heterogeneity of mRNA expression in Italian fucosidosis patients.

作者信息

Guazzi S, Persici P, Gatti R, Durand P, O'Brien J S, Romeo G

机构信息

Laboratorio di Genetica Molecolare, Istituto G. Gaslini, Genova, Italy.

出版信息

Hum Genet. 1989 Apr;82(1):63-6. doi: 10.1007/BF00288274.

DOI:10.1007/BF00288274

PMID:2565868

Abstract

Genomic DNA and mRNA from six unrelated Italian patients affected with fucosidosis were analyzed using two probes (AF3 and AF11B) of partial length cDNA coding for the lysosomal enzyme alpha-L-fucosidase. DNA from patient 2, digested with EcoRI, showed a variant pattern of hybridization caused by the loss of an EcoRI site. The same patient showed a markedly decreased amount of mRNA on Northern blot hybridization. Among the remaining patients, who showed no variation at the DNA level, two apparently lacked mRNA for alpha-L-fucosidase whereas the other three showed a transcript similar in size and amount to that observed in controls. These data confirm the genetic heterogeneity of the molecular defects causing fucosidosis in Italy.

摘要

使用编码溶酶体酶α-L-岩藻糖苷酶的部分长度cDNA的两种探针（AF3和AF11B），对6名患有岩藻糖苷贮积症的不相关意大利患者的基因组DNA和mRNA进行了分析。用EcoRI消化的患者2的DNA显示出由于EcoRI位点缺失导致的杂交变异模式。同一名患者在Northern印迹杂交中显示mRNA量明显减少。在其余DNA水平未显示变异的患者中，两名患者明显缺乏α-L-岩藻糖苷酶的mRNA，而另外三名患者显示出大小和数量与对照中观察到的相似的转录本。这些数据证实了意大利导致岩藻糖苷贮积症的分子缺陷的遗传异质性。