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基于37个标记的人类9号染色体PCR基因连锁图谱:关于突变和正干涉的观察

A 37-marker PCR-based genetic linkage map of human chromosome 9: observations on mutations and positive interference.

作者信息

Zahn L M, Kwiatkowski D J

机构信息

Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA.

出版信息

Genomics. 1995 Jul 20;28(2):140-6. doi: 10.1006/geno.1995.1124.

Abstract

Refinement of an "index" marker genetic linkage map of human chromosome 9 using the CEPH reference pedigrees has been achieved through the addition of 11 markers to the previous map of 26 markers. Five of the 11 markers added to the map are new markers of the GATA repeat type, 1 is a complex repeat, and the remaining 5 as well as the original 26 markers are all GT/CA repeats. Twelve definite and five probable mutations were detected in this analysis and were more common for the GATA repeats than the GT/CA repeats. Strong evidence for positive interference was seen over the length of the chromosome, but there were significantly more double recombination events in the pericentromeric region than elsewhere, suggesting that interference is less strong in that region.

摘要

通过在先前由26个标记组成的图谱上新增11个标记,利用CEPH参考家系对人类9号染色体的“索引”标记遗传连锁图谱进行了优化。添加到图谱中的11个标记中有5个是GATA重复类型的新标记,1个是复合重复,其余5个以及原来的26个标记均为GT/CA重复。在该分析中检测到12个确定的和5个可能的突变,这些突变在GATA重复中比在GT/CA重复中更常见。在整个染色体长度上都观察到了正向干扰的有力证据,但着丝粒周围区域的双重组事件明显多于其他区域,这表明该区域的干扰作用较弱。

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