论文部分内容阅读
突变引起的遗传病有多少种属于染色体缺失,目前尚不十分清楚。在X-连锁病例中,如DMD、血友病Ⅰ型等,对其进行常规电泳分析时,可见到与基因有关区段的缺失。在常染色体疾病中,由于另一个等位基因的存在影响了缺失基因的检出,而使该方法的应用受到限制。本文介绍的交变凝胶电泳法(FIGE),适用于对常染色体病中大片段DNA(>5-kb)缺失的研究。作者所研究的Sandhoff氏病,是一种由于体内氨基已糖酶(HEXB)活性丧失所
How many genetic diseases caused by mutations belong to chromosome loss, it is not yet clear. In the X-linked cases, such as DMD, hemophilia type I, the conventional electrophoresis analysis, we can see the deletion of the gene-related segments. In autosomal diseases, the application of this method is limited because the presence of the other allele affects the detection of the deleted gene. This article describes the alternating gel electrophoresis (FIGE), suitable for the study of large fragments of autosomal disease DNA (> 5-kb) deletion. Sandhoff’s disease studied by the authors is a result of the loss of activity of hexosaminidase (HEXB) in the body