Heterogeneity in type I Gaucher disease demonstrated by restriction mapping of the gene.
Heterogeneity in type I Gaucher disease demonstrated by restriction mapping of the gene.
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通过基因限制性图谱证明 I 型戈谢病的异质性。
DOI：
10.1073/pnas.82.16.5442
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发表时间：
1985
影响因子：
11.1
通讯作者：
Beutler,E
中科院分区：
文献类型：
--
作者：
Sorge,J;Gelbart,T;West,C;Westwood,B;Beutler,E
以克隆的人葡萄糖脑苷酶基因片段为探针，研究了高谢病基因区域的限制性多态。用限制性内切酶Pvu II和Kpn I消化产生的片段大小的变异性被发现。PvuⅡ等位基因频率为0.65，Pv1.1+等位基因频率为0.35。在不同的种族群体中也遇到了类似的频率。在8名患有高谢病的犹太患者中，有5名患者被发现存在Pvu II限制酶基因的杂合子。一名患有I型高谢病的非犹太患者是KPN I变异的杂合子。与古老的Pvu II多态的任何一个等位基因相关的高谢病基因的存在清楚地表明，即使在犹太人群体中，高谢病突变也不止一次独立发生。据推测，在非犹太人群中也发生了不同的突变。
A cloned fragment of human glucocerebrosidase cDNA has been used as a probe to study restriction polymorphisms in the region of the gene for Gaucher disease. Variability in the size of fragments produced by digestion with the restriction endonucleases Pvu II and Kpn I was discovered. The Pvu II polymorphism was found to be a very prevalent one with a gene frequency of 0.65 for the Pv1.1- allele and 0.35 for the Pv1.1+ allele. Similar frequencies were encountered among diverse ethnic groups. Five of eight Jewish patients with Gaucher disease were found to be heterozygous for the Pvu II restriction polymorphism. One non-Jewish patient with type I Gaucher disease was heterozygous for the Kpn I variant. The existence of Gaucher disease genes in association with either allele of the ancient Pvu II polymorphism clearly indicates that, even within the Jewish population, the Gaucher disease mutation has occurred independently more than once. Presumably, different mutations have also occurred in the non-Jewish population.