Heterogeneity of mRNA expression in Italian fucosidosis patients.
Heterogeneity of mRNA expression in Italian fucosidosis patients.
复制标题
意大利岩藻糖苷沉积症患者 mRNA 表达的异质性。
DOI：
10.1007/bf00288274
复制
发表时间：
1989
期刊：
影响因子：
5.3
通讯作者：
Romeo,G
中科院分区：
文献类型：
--
作者：
Guazzi,S;Persici,P;Gatti,R;Durand,P;O'Brien,JS;Romeo,G
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 withEcoRI, showed a variant pattern of hybridization caused by the loss of anEcoRI 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.
