Approaches to localizing disease genes as applied to cystic fibrosis.
Approaches to localizing disease genes as applied to cystic fibrosis.
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应用于囊性纤维化的疾病基因定位方法。
DOI：
10.1093/nar/18.2.345
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发表时间：
1990
影响因子：
14.9
通讯作者：
Iannuzzi,MC
中科院分区：
文献类型：
--
作者：
Dean,M;Drumm,ML;Stewart,C;Gerrard,B;Perry,A;Hidaka,N;Cole,JL;Collins,FS;Iannuzzi,MC
利用染色体跳跃和步行以及限制性片段长度多态性（RFLP）分析，我们确定了囊性纤维化基因的区域。在基因方向上跨越约250 kb的DNA片段被分离出来，并用于鉴定囊性纤维化家族中几个新的多态性信息。这些RFLP包括一个高度多态性的CA/GT重复序列和一个10 bp的插入，使用聚合酶链反应未被发现。通过分析一个在基因附近有重组的家族，我们可以排除这个区域含有突变。关于这些标记的连锁不平衡程度的数据提供了关于基因位于何处的额外信息。
Using chromosome jumping and walking and restriction fragment length polymorphism (RFLP) analysis, we have defined the region which must contain the cystic fibrosis gene. DNA segments spanning approximately 250 kb in the direction of the gene were isolated and used to identify several new polymorphisms informative in cystic fibrosis families. These RFLPs include a highly polymorphic, CA/GT repeat, and a 10 bp insertion uncovered using the polymerase chain reaction. By analyzing a family with a recombination near the gene, we can exclude this region as containing the mutation. Data on the extent of linkage disequilibrium of these markers provides additional information on where the gene is located.