12号和14号染色体上t(12;14)平滑肌瘤断点在D14S298和D14S540之间的精确定位。

Precise mapping of t(12;14) leiomyoma breakpoint on chromosome 14 between D14S298 and D14S540.

作者信息

Doney M K, Gerken S C, Lynch R, Bhugra B, Hug K, White R, Weissenbach J, Menon A G

机构信息

Department of Molecular Genetics, Biochemistry, and Microbiology, University of Cincinnati College of Medicine, OH 45267-0524, USA.

出版信息

Cancer Lett. 1995 Sep 25;96(2):245-52. doi: 10.1016/0304-3835(95)03938-s.

DOI:10.1016/0304-3835(95)03938-s

PMID:7585464

Abstract

Uterine leiomyoma is a common tumor of smooth muscle cell origin often characterized by the presence of a balanced t(12;14)(q13-15;q24.1) chromosomal translocation. This breakpoint on chromosome 14 had previously been placed between the markers SPTB and D14S77, a region estimated to span 7 cM. In this study we have used a meiotic breakpoint mapping panel to construct a high resolution genetic map of this interval. Markers that mapped within this interval were used to analyze DNA from a somatic cell hybrid containing the t(12;14) translocated chromosome. The results of this analysis localize the t(12;14) breakpoint on chromosome 14 between D14S298 and D14S540, between which no meiotic recombination was detected. This sets the stage for identifying the gene(s) disrupted by the chromosomal translocation by defining the markers that flank the translocation breakpoint.

摘要

子宫平滑肌瘤是一种常见的起源于平滑肌细胞的肿瘤，其特征通常是存在平衡的t(12;14)(q13 - 15;q24.1)染色体易位。14号染色体上的这个断点先前被定位在标记SPTB和D14S77之间，该区域估计跨度为7厘摩。在本研究中，我们使用减数分裂断点定位面板构建了该区间的高分辨率遗传图谱。定位在该区间内的标记用于分析来自含有t(12;14)易位染色体的体细胞杂种的DNA。该分析结果将14号染色体上的t(12;14)断点定位在D14S298和D14S540之间，在这两者之间未检测到减数分裂重组。这通过定义位于易位断点两侧的标记，为鉴定因染色体易位而破坏的基因奠定了基础。