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人类第17号染色体区域定位图谱:在1型神经纤维瘤病中的应用

Regional mapping panel for human chromosome 17: application to neurofibromatosis type 1.

作者信息

van Tuinen P, Rich D C, Summers K M, Ledbetter D H

机构信息

Institute for Molecular Genetics, Baylor College of Medicine, Houston, Texas 77030.

出版信息

Genomics. 1987 Dec;1(4):374-81. doi: 10.1016/0888-7543(87)90042-5.

Abstract

A somatic cell hybrid mapping panel was constructed to localize cloned DNA sequences to any of 15 potentially different regions of human chromosome 17. Relatively high-resolution mapping is possible for 50% of the chromosome length in which 12 breakpoints are distributed over approximately 45 megabases, with an average spacing estimated at 1 breakpoint every 2-7 megabases. This high-resolution capability includes the pericentromeric region of 17 to which von Recklinghausen neurofibromatosis (NF1) has recently been mapped. Using 20 cloned genes and anonymous probes, we have tested the expected order and location of panel breakpoints and confirmed, refined, or corrected the regional assignment of several cloned genes and anonymous probes. Four markers with varying degrees of linkage to NF1 have been physically localized and ordered by the panel: the loosely linked markers myosin heavy chain 2 (25 cM) to p12----13.105 and nerve growth factor receptor (14 cM) to q21.1----q23; the more closely linked pABL10-41 (D17S71, 5 cM) to p11.2; and the tightly linked pHHH202 (D17S33) to q11.2-q12. Thus, physical mapping of linked markers confirms a pericentromeric location of NF1 and, along with other data, suggests the most likely localization is proximal 17q.

摘要

构建了一个体细胞杂种定位板,以将克隆的DNA序列定位到人类17号染色体15个可能不同区域中的任何一个。对于染色体长度的50%,可以进行相对高分辨率的定位,其中12个断点分布在约45兆碱基上,平均间距估计为每2 - 7兆碱基有1个断点。这种高分辨率能力包括17号染色体的着丝粒周围区域,最近已将冯雷克林霍增氏神经纤维瘤病(NF1)定位到该区域。使用20个克隆基因和匿名探针,我们测试了定位板断点的预期顺序和位置,并确认、完善或校正了几个克隆基因和匿名探针的区域分配。定位板已将四个与NF1有不同程度连锁的标记进行了物理定位和排序:与p12----13.105松散连锁的肌球蛋白重链2(25厘摩)和与q21.1----q23连锁的神经生长因子受体(14厘摩);与p11.2连锁更紧密的pABL10 - 41(D17S71,5厘摩);以及与q11.2 - q12紧密连锁的pHHH202(D17S33)。因此,连锁标记的物理定位证实了NF1的着丝粒周围位置,并且与其他数据一起表明最可能的定位是17q近端。

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