David F, Clerget F, Lucote G
Laboratory of Melocular Genetics, INTS, Paris, France.
J Neurol. 1988 Nov;235(8):485-6. doi: 10.1007/BF00314252.
Segregation studies of Alzheimer's disease (AD) gene and a cloned DNA probe (D21S11), which detects an EcoRI restriction fragment length polymorphism for a sequence located in the medial part of the long arm of chromosome 21, are reported in a large pedigree, in which AD is transmitted as an autosomal dominant mendelian trait. In this pedigree, the AD gene co-segregation with one of the alternative alleles at the probe raises the possibility of using such a marker for presymptomatic diagnosis of individuals at risk for the disease.
在一个大型家系中报告了阿尔茨海默病(AD)基因与一个克隆的DNA探针(D21S11)的分离研究,该探针可检测位于21号染色体长臂中部序列的EcoRI限制性片段长度多态性,在这个家系中,AD作为常染色体显性孟德尔性状遗传。在这个家系中,AD基因与探针处的一个替代等位基因共分离,这增加了使用这种标记对有患病风险个体进行症状前诊断的可能性。