Dahl N, Erikson A, Hammarström-Heeroma K, Pettersson U
Department of Medical Genetics, University of Uppsala, Sweden.
Genomics. 1988 Nov;3(4):296-8. doi: 10.1016/0888-7543(88)90118-8.
A MspI polymorphism was detected in the beta-glucocerebrosidase gene in 10 Swedish families affected by type III Gaucher's disease. The sizes of the polymorphic fragments were 1.70 and 1.75 kb and the disease was found to segregate with the 1.70-kb fragment in 32 meioses. Only the 1.75-kb fragment was detected in families with no history of Gaucher's disease. The results indicate that the mutation causing type III Gaucher's disease has occurred once within the Swedish population. The polymorphism is useful for carrier detection since biochemical tests sometimes give inconclusive results.
在10个受III型戈谢病影响的瑞典家庭中，检测到β-葡萄糖脑苷脂酶基因存在MspI多态性。多态性片段的大小分别为1.70 kb和1.75 kb，在32次减数分裂中发现该疾病与1.70 kb的片段连锁。在无戈谢病家族史的家庭中仅检测到1.75 kb的片段。结果表明，导致III型戈谢病的突变在瑞典人群中仅发生过一次。该多态性对于携带者检测很有用，因为生化检测有时会给出不确定的结果。
