对多代大家庭系谱中囊性纤维化的连锁研究。
A linkage study of cystic fibrosis in extended multigenerational pedigrees.
作者信息
Watkins P C, Schwartz R, Hoffman N, Stanislovitis P, Doherty R, Klinger K
出版信息
Am J Hum Genet. 1986 Dec;39(6):735-43.
The linkage of polymorphic DNA markers on chromosome 7 to cystic fibrosis (CF) was examined in two pedigrees and a number of smaller nuclear families. The pedigrees are multigenerational and together consist of more than 300 members including 30 affected individuals, while the nuclear families each have two generations and either two or three children with CF. Tight linkage was observed between the CF locus and the met oncogene locus theta = 0, zeta = 15.45), pJ3.11 (theta = 0, zeta = 10.07), and 7C22 (theta = 0, zeta = 6.64) in both the pedigrees and nuclear families with no evidence for recombination between CF and any of the DNA markers. Weaker linkage between the CF locus and the locus for the serum enzyme activity marker paraoxonase (PON) was detected, theta = 0.18, zeta = 0.76. The two pedigrees were sufficiently informative to detect significant linkage between CF and each of the three DNA markers previously shown to be tightly linked to the CF locus. These results establish a locus for CF in these pedigrees in the region of chromosome 7 nearest the three DNA markers met, pJ3.11, and 7C22 and are consistent with locus homogeneity for the defect causing CF in these populations and others that have been examined to date.
在两个家系和一些较小的核心家庭中研究了7号染色体上多态性DNA标记与囊性纤维化（CF）的连锁关系。这些家系是多代的，总共由300多名成员组成，其中包括30名患病个体，而核心家庭每个都有两代人，有两个或三个患有CF的孩子。在两个家系和核心家庭中均观察到CF基因座与met癌基因座（θ = 0，ζ = 15.45）、pJ3.11（θ = 0，ζ = 10.07）和7C22（θ = 0，ζ = 6.64）之间存在紧密连锁，没有证据表明CF与任何DNA标记之间发生重组。检测到CF基因座与血清酶活性标记对氧磷酶（PON）基因座之间的连锁较弱，θ = 0.18，ζ = 0.76。这两个家系提供了足够的信息来检测CF与先前显示与CF基因座紧密连锁的三个DNA标记中的每一个之间的显著连锁。这些结果在7号染色体上最接近三个DNA标记met、pJ3.11和7C22的区域中确定了这些家系中CF的一个基因座，并且与这些人群以及迄今为止已检测的其他人群中导致CF的缺陷的基因座同质性一致。
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