Genetic homogeneity of cystic fibrosis.
Genetic homogeneity of cystic fibrosis.
复制标题
囊性纤维化的遗传同质性。
DOI：
10.1093/nar/14.21.8681
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发表时间：
1986
影响因子：
14.9
通讯作者：
Wainwright,B
中科院分区：
文献类型：
--
作者：
Klinger,K;Stanislovitis,P;Hoffman,N;Watkins,PC;Schwartz,R;Doherty,R;Scambler,P;Farrall,M;Williamson,R;Wainwright,B
我们研究了分离囊性纤维化（CF）的大型Amish/Mennonite/ huterite家族，以寻找CF与位于7号染色体上的多态性DNA标记pJ3.11和7C22之间的联系。这些近亲谱系由300多个成员组成，其中包括30个受影响的个体。在这些家族中，CF位点与21号染色体标记D21S5之间的连锁，以及CF与7号染色体上的变原基因位点标记之间的连锁。我们现在报道CF和pJ3.11 （Z -4.92, θ -0）以及CF和7C22 （Z -3.42, θ -0）之间的联系。因此，CF在这些大系谱中分离的方式与来自较小的近亲家庭的数据一致，这些数据与7号染色体上最接近CF的标记一致。这些数据与迄今为止所研究的群体中导致CF的缺陷的基因座同质性一致。
we studied large Amish/Mennonite/Hutterite kindreds that segregate cystic fibrosis (CF) for linkage between CF and the polymorphic DNA markers pJ3.11 and 7C22 located on chromosome 7. These Inbred pedigrees consist of more than 300 members including 30 affected Individuals. In these families, linkage between the CF locus and the chromosome 21 marker D21S5 and between CF and the marker at themetoncogene locus on chromosome 7 had been previously indicated. We now report linkage between CF and pJ3.11 ( Zˆ -4.92, θˆ -0) and between CF and 7C22 ( Zˆ -3.42, θˆ -0). Therefore, CF segregates 1n these large pedigrees 1n a manner consistent with data from smaller outbred families with respect to the markers on chromosome 7 closest to CF. These data are consistent with locus homogeneity for the defect causing CF 1n the populations that have been examined to date.