Rosenberg K M, Schiffmann R, Kaneski C, Brady R O, Sorensen S A, Hasholt L
Institute of Medical Biochemistry and Genetics, Department of Genetics, Blegdamsvej 3, DK-2200 Copenhagen, Denmark.
Hum Mutat. 2000 Feb;15(2):207-8. doi: 10.1002/(SICI)1098-1004(200002)15:2<207::AID-HUMU16>3.0.CO;2-C.
Fabry disease is an X-linked disorder caused by a deficiency of the lysosomal enzyme alpha-galactosidase A. The mutations responsible for Fabry disease are diverse and include large rearrangements as well as single base substitutions, and they are dispersed throughout the seven exons of the gene. In this study, we found five novel mutations in four different exons. We have detected the mutations by the PCR-SSCP method and then analysed them by direct sequencing. Three of the novel mutations were deletions: 1205delA, 1238del26 and 5236del18. We also found one novel nonsense mutation: W162X. The final novel mutation was an insertion combined with a deletion: 10995ins24del4.
法布里病是一种X连锁疾病，由溶酶体酶α-半乳糖苷酶A缺乏引起。导致法布里病的突变多种多样，包括大片段重排以及单碱基替换，且它们分散在该基因的七个外显子中。在本研究中，我们在四个不同的外显子中发现了五个新突变。我们通过PCR-SSCP方法检测到这些突变，然后通过直接测序对其进行分析。其中三个新突变是缺失：1205delA、1238del26和5236del18。我们还发现了一个新的无义突变：W162X。最后一个新突变是插入合并缺失：10995ins24del4。
