在一个大型阿尔茨海默病家系（FAD4）中，同一基因座上的单一突变是否导致了所有患病病例？

Is a single mutation at the same locus responsible for all affected cases in a large Alzheimer pedigree (FAD4)?

作者信息

Martinez M, Campion D, Babron M C, Clerget-Darpoux F

机构信息

INSERM, Unité 155, Paris, France.

出版信息

Genet Epidemiol. 1993;10(6):431-5. doi: 10.1002/gepi.1370100617.

DOI:10.1002/gepi.1370100617

PMID:8314039

Abstract

Analysis of marker segregation in the large Alzheimer pedigree, FAD4, leads to the conclusion, with a type I error of 5%, of linkage heterogeneity between two branches of the pedigree: the disease cosegregates with chromosome 21 markers flanking the APP area in one branch and not in the other one. Thus, we conclude that a single mutation in the chromosome 21 region surrounding APP cannot be responsible for all the affected cases in this pedigree.

摘要

对大型阿尔茨海默病家系FAD4中的标记分离进行分析后，在5%的I型错误率下得出结论：该家系的两个分支之间存在连锁异质性，在一个分支中，疾病与淀粉样前体蛋白（APP）区域两侧的21号染色体标记共分离，而在另一个分支中则不然。因此，我们得出结论，APP周围21号染色体区域的单一突变不可能是该家系所有患病病例的病因。