Yang M, Allen H, DiCioccio R A
Department of Gynecologic Oncology, Roswell Park Cancer Institute, Buffalo, NY 14263.
Biochem Biophys Res Commun. 1992 Dec 15;189(2):1063-8. doi: 10.1016/0006-291x(92)92312-l.
Fucosidosis is an autosomal recessive, lysosomal storage disease featured by deficient activity of alpha-L-fucosidase. Lymphoid cell lines from a fucosidosis patient (JT) and a healthy individual (control) contained alpha-L-fucosidase mRNA of the same size, 2.3 Kb, as determined by Northern blot analysis. cDNA was prepared from alpha-L-fucosidase mRNA of JT and control cells and each cDNA was amplified by the polymerase chain reaction. Direct DNA sequencing of the amplified products revealed a single mutation in JT, a G1141-->T transition. This changed the codon (GAA) for Glu-375 to a stop codon (UAA). Amplification and sequencing of the area containing the G1141-->T transition in genomic DNA of JT and control cells demonstrated that the mutation was homozygous in JT. Analysis of cDNA and genomic DNA derived from lymphoid cells of mother JT revealed her to be heterozygous (G and T) at position 1141. The G1141-->T mutation is probably responsible for disease in JT.
岩藻糖苷贮积症是一种常染色体隐性溶酶体贮积病，其特征为α-L-岩藻糖苷酶活性缺乏。通过Northern印迹分析确定，来自一名岩藻糖苷贮积症患者（JT）和一名健康个体（对照）的淋巴细胞系含有大小相同（2.3kb）的α-L-岩藻糖苷酶mRNA。从JT和对照细胞的α-L-岩藻糖苷酶mRNA制备cDNA，并且通过聚合酶链反应扩增每个cDNA。对扩增产物进行直接DNA测序显示JT中有一个单一突变，即G1141→T转换。这将Glu-375的密码子（GAA）改变为终止密码子（UAA）。对JT和对照细胞基因组DNA中包含G1141→T转换区域的扩增和测序表明，该突变在JT中是纯合的。对来自JT母亲淋巴细胞的cDNA和基因组DNA分析显示，她在1141位是杂合的（G和T）。G1141→T突变可能是JT患病的原因。
