Zlotogora J, Zeigler M, Bach G
Department of Human Genetics, Hadassah University Hospital, Jerusalem, Israel.
Am J Hum Genet. 1988 Feb;42(2):271-3.
Four examples of Israeli communities or large families in which high consanguinity is common are presented, with two different lysosomal storage disorders within each community. In each of the four cases the stored substances share common chemical structure, despite the different lysosomal hydrolases involved in each disease. A similar phenomenon is known among the Ashkenazi Jews, in whom four of the most frequent hereditary disorders are lysosomal storage disorders, which are characterized by storage of sphingolipid derivatives. Similar findings are reported in the literature in other communities. We suggest that this phenomenon indicates a selection in favor of lysosomal storage disorders of similar nature in certain populations. The selection forces leading to this phenomenon have not been identified yet, and it has not yet been determined whether these forces are the same in the different communities presented here.
本文介绍了四个以色列社区或大家庭的例子，这些社区或家庭中近亲结婚现象普遍，且每个社区都存在两种不同的溶酶体贮积症。在这四个案例中，尽管每种疾病涉及的溶酶体水解酶不同，但所储存的物质具有共同的化学结构。在阿什肯纳兹犹太人中也存在类似现象，他们最常见的四种遗传性疾病中有四种是溶酶体贮积症，其特征是鞘脂衍生物的储存。文献中在其他社区也报道了类似的发现。我们认为，这一现象表明在某些人群中，对性质相似的溶酶体贮积症存在选择倾向。导致这一现象的选择力量尚未确定，而且也尚未确定这里所呈现的不同社区中的这些力量是否相同。
