阿尔茨海默病：6号和14号染色体上存在易感基因座的证据。
Alzheimer disease: evidence for susceptibility loci on chromosomes 6 and 14.
作者信息
Weitkamp L R, Nee L, Keats B, Polinsky R J, Guttormsen S
出版信息
Am J Hum Genet. 1983 May;35(3):443-53.
Abstract
We report the transmission of HLA haplotypes and Gm allotypes in 97 members of a single kindred containing 257 individuals, 45 of whom were determined by clinical examination, autopsy, or historical data to have had Alzheimer disease (AD). Extensive inbreeding suggests that more than one gene may contribute to susceptibility to AD in this family, despite the apparent vertical transmission of illness. The distribution of HLA haplotypes and of Gm allotypes to affected and unaffected siblings is consistent with the possibility that genes in the HLA region of chromosome 6 and perhaps also in the Gm region of chromosome 14 are determinants of susceptibility. Further studies are needed to investigate whether susceptibility to AD may result from an interaction between (immune response?) genes on these two chromosomes.
摘要
我们报告了一个包含257人的单一家族中97名成员的HLA单倍型和Gm同种异型的传递情况，其中45人经临床检查、尸检或历史数据确定患有阿尔茨海默病（AD）。广泛的近亲繁殖表明，尽管该病明显呈垂直传递，但可能不止一个基因促成了这个家族对AD的易感性。HLA单倍型和Gm同种异型在患病和未患病的兄弟姐妹中的分布情况表明，6号染色体HLA区域以及可能14号染色体Gm区域的基因有可能是易感性的决定因素。需要进一步研究来调查AD易感性是否可能源于这两条染色体上（免疫反应？）基因之间的相互作用。
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