Estivill X, Gasparini P, Novelli G, Casals T, Nunes V, Gallano P, Savoia A, Ruzzo A, Dallapiccola B, Pignatti P F
Unitat de Genètica Molecular, Fundació d'Investigació Santa Creu i Sant Pau, Barcelona, Spain.
Hum Genet. 1989 Sep;83(2):175-8. doi: 10.1007/BF00286713.
Three polymorphic DNA marker loci (INT1L1, D7S23 and D7S399) map to a chromosomal region that is very close to the cystic fibrosis (CF) locus in terms of genetic distance. These marker loci have been used to analyse the linkage disequilibrium in 137 CF families from two South European countries (Italy and Spain). The markers can be analysed for differences in linkage disequilibrium more easily in these populations than in North Europeans, in whom the disequilibrium between the allelic systems defined by the probes and CF is much greater and on a "plateau" through the genetic region. The different levels of disequilibrium found in the studied populations suggest that D7S399 and D7S23 are both closer to CF than INT1L1, and provide additional information on the origins and homogeneity of the CF defect.
三个多态性DNA标记位点（INT1L1、D7S23和D7S399）在遗传距离上定位于一个与囊性纤维化（CF）位点非常接近的染色体区域。这些标记位点已被用于分析来自两个南欧国家（意大利和西班牙）的137个CF家族中的连锁不平衡。与北欧人相比，在这些人群中分析标记之间连锁不平衡的差异更容易，在北欧人中，由探针定义的等位基因系统与CF之间的不平衡要大得多，并且在整个遗传区域处于“平台期”。在研究人群中发现的不同连锁不平衡水平表明，D7S399和D7S23都比INT1L1更接近CF，并提供了有关CF缺陷起源和同质性的更多信息。
