囊性纤维化的基因同质性。

Genetic homogeneity of cystic fibrosis.

作者信息

Klinger K, Stanislovitis P, Hoffman N, Watkins P C, Schwartz R, Doherty R, Scambler P, Farrall M, Williamson R, Wainwright B

出版信息

Nucleic Acids Res. 1986 Nov 11;14(21):8681-6. doi: 10.1093/nar/14.21.8681.

DOI:10.1093/nar/14.21.8681

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC311886/

Abstract

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 the met oncogene locus on chromosome 7 had been previously indicated. We now report linkage between CF and pJ3.11 (Z = 4.92, theta = 0) and between CF and 7C22 (Z = 3.42, theta = 0). Therefore, CF segregates in these large pedigrees in 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 in the populations that have been examined to date.

摘要

我们研究了阿米什人/门诺派/哈特派的大家族，这些家族中囊性纤维化（CF）呈分离状态，以研究CF与位于7号染色体上的多态性DNA标记pJ3.11和7C22之间的连锁关系。这些近亲家系由300多名成员组成，其中包括30名患病个体。在这些家族中，先前已表明CF基因座与21号染色体标记D21S5之间以及CF与7号染色体上原癌基因座处的标记之间存在连锁关系。我们现在报告CF与pJ3.11之间的连锁关系（Z = 4.92, θ = 0）以及CF与7C22之间的连锁关系（Z = 3.42, θ = 0）。因此，在这些大家族中，CF的分离方式与来自较小的非近亲家族关于7号染色体上最接近CF的标记的数据一致。这些数据与迄今为止所研究人群中导致CF的缺陷的基因座同质性相符。

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Isolation of a further anonymous informative DNA sequence from chromosome seven closely linked to cystic fibrosis.从七号染色体上分离出另一个与囊性纤维化紧密连锁的匿名信息性DNA序列。

Nucleic Acids Res. 1986 Mar 11;14(5):1951-6. doi: 10.1093/nar/14.5.1951.

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Nature. 1985;318(6044):384-5. doi: 10.1038/318384a0.

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