通过场反转凝胶电泳证实与桑德霍夫病相关的常染色体50千碱基缺失。
Demonstration of a Sandhoff disease-associated autosomal 50-kb deletion by field inversion gel electrophoresis.
作者信息
Bikker H, van den Berg F M, Wolterman R A, de Vijlder J J, Bolhuis P A
机构信息
Department of Experimental Medicine, Academic Medical Center, Amsterdam, The Netherlands.
出版信息
Hum Genet. 1989 Feb;81(3):287-8. doi: 10.1007/BF00279006.
PMID:2921040
Abstract
Field inversion gel electrophoresis (FIGE) of SfiI-digested chromosomal DNA was used to demonstrate a 50-kb deletion in one allele of the gene encoding the beta subunit of human hexosaminidase (HEXB at 5q13) of two apparently unrelated patients with Sandhoff disease. In conventional electrophoretic restriction analysis, this deletion was masked by hybridization of bands from the other allele.
摘要
采用脉冲场反转凝胶电泳（FIGE）分析经SfiI酶切的染色体DNA，以证实两名明显无亲缘关系的桑德霍夫病患者中，编码人己糖胺酶β亚基（位于5q13的HEXB）的基因的一个等位基因存在50kb的缺失。在传统的电泳限制性分析中，该缺失被另一个等位基因的条带杂交所掩盖。
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