17号染色体上神经纤维瘤病1型（NF1）区域的精细物理图谱和遗传图谱
Refined physical and genetic mapping of the NF1 region on chromosome 17.
作者信息
Fain P R, Goldgar D E, Wallace M R, Collins F S, Wright E, Nguyen K, Barker D F
机构信息
Department of Medical Information, University of Utah School of Medicine, Salt Lake City 84108.
出版信息
Am J Hum Genet. 1989 Nov;45(5):721-8.
A total of 15 polymorphic markers were used to construct a genetic map that encompasses the NF1 locus on chromosome 17. The markers were a subset of a large collection of chromosome 17-specific probes and were selected for marker typing in NF1 families after physical localization to the pericentric region of the chromosome. Multilocus data for a total of 17 informative NF1 families and 39 other families were included in genetic analyses. No recombination was observed between NF1 and four markers, one or more of which was informative in 86% of parents. More-refined physical mapping studies demonstrated that all four of the markers are proximal to the chromosome 17 translocation breakpoints from two NF1 patients bearing balanced translocations. The region flanking the disease locus spans a distance of 1 centimorgan (cM) in males and 9 cM in females. Close flanking markers were informative in 76% of meioses. Sex differences in recombination rates in the pericentric region were highly significant statistically.
总共使用了15个多态性标记来构建一个涵盖17号染色体上NF1基因座的遗传图谱。这些标记是大量17号染色体特异性探针集合的一个子集，在物理定位到染色体的着丝粒区域后，被选择用于在NF1家族中进行标记分型。总共17个信息丰富的NF1家族和39个其他家族的多位点数据被纳入遗传分析。在NF1和四个标记之间未观察到重组，其中一个或多个标记在86%的父母中具有信息性。更精细的物理图谱研究表明，所有四个标记都位于两名携带平衡易位的NF1患者的17号染色体易位断点近端。疾病基因座两侧的区域在男性中跨度为1厘摩（cM），在女性中为9 cM。紧密侧翼标记在76%的减数分裂中具有信息性。着丝粒区域重组率的性别差异在统计学上非常显著。
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