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1型神经纤维瘤病基因的紧密连锁标记

Tightly linked markers for the neurofibromatosis type 1 gene.

作者信息

White R, Nakamura Y, O'Connell P, Leppert M, Lalouel J M, Barker D, Goldgar D, Skolnick M, Carey J, Wallis C E

机构信息

Howard Hughes Medical Institute, Salt Lake City, Utah.

出版信息

Genomics. 1987 Dec;1(4):364-7. doi: 10.1016/0888-7543(87)90040-1.

Abstract

Relationships among genetic markers in the region of the neurofibromatosis type 1 (NF1) gene on chromosome 17 were investigated by linkage studies in a large sample set of affected families and in a panel of 58 normal families. A new marker, pHHH202 (D17S33), was included along with two markers known to be closely linked to NF. The maximum likelihood estimate of the recombination rate between the pHHH202 and NF1 loci was found to be O. Multilocus analysis suggested the following marker order: pA10-41-(p3-6, pHHH202); the NF1 gene fell with equal likelihood between either pA10-41-p3-6 or p3-6-pHHH202. The odds against NF1 being outside this cluster of tightly linked markers were greater than 15:1.

摘要

通过对大量患病家系样本以及由58个正常家系组成的样本组进行连锁研究,调查了17号染色体上1型神经纤维瘤病(NF1)基因区域内遗传标记之间的关系。一个新的标记pHHH202(D17S33)与另外两个已知与NF紧密连锁的标记一同被纳入研究。发现pHHH202与NF1基因座之间重组率的最大似然估计值为0。多位点分析表明标记顺序如下:pA10 - 41 - (p3 - 6, pHHH202);NF1基因位于pA10 - 41 - p3 - 6或p3 - 6 - pHHH202之间的可能性相同。NF1不在这一紧密连锁标记簇之外的几率大于15:1。

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