Richard M M, Erenberg G, Triggs-Raine B L
Department of Biochemistry and Molecular Biology, University of Manitoba, Winnipeg, Canada.
Biochem Mol Med. 1995 Jun;55(1):74-6. doi: 10.1006/bmme.1995.1035.
Tay-Sachs disease (TSD) results from a deficiency of beta-hexosaminidase A (EC 3.2.1.52) activity. A child with late-infantile TSD was found to have two HEXA mutations, 986 + 3A-->G (A-->G at the +3 position of intron 8) and 533G-->A, associated with the variant B1 form of TSD. We were able to detect exon 8-deleted, but no correctly spliced HEXA mRNA, from the non-533G-->A allele in this patient. This suggests that 986 + 3A-->G results in missplicing and, together with 533G-->A, TSD.
泰-萨克斯病（TSD）是由于β-己糖胺酶A（EC 3.2.1.52）活性缺乏所致。一名患有晚发性婴儿型TSD的儿童被发现有两个HEXA突变，即986 + 3A→G（内含子8第+3位的A→G）和533G→A，与TSD的变异B1型相关。我们能够从该患者非533G→A等位基因中检测到外显子8缺失，但未检测到正确剪接的HEXA mRNA。这表明986 + 3A→G导致剪接错误，并与533G→A一起导致了TSD。
