Grimm T, Müller B, Dreier M, Kind E, Bettecken T, Meng G, Müller C R
Institut für Humangenetik, Universität Würzburg, Federal Republic of Germany.
Am J Hum Genet. 1989 Sep;45(3):368-72.
The DMD gene, which spans more than 2,000 kbp, has been assigned to band Xp21 of the X chromosome. Two subclones (PERT 87-1 and PERT 87-15) of the intragenic locus DXS164 physically are separated by approximately 60 kbp. Linkage studies were done in 49 informative DMD families by using the LINKAGE program. Crossing-over between the loci studied occurred in four families. A recombination rate of 4% (support interval [Zmax-1] 1%-10%), which was 54 (support interval 14-135-fold) times higher than expected, was found with a maximum lod score of 13.50. These data suggest a hot spot for recombination within DXS164.
DMD基因跨度超过2000千碱基对,已定位于X染色体的Xp21带。基因内位点DXS164的两个亚克隆(PERT 87 - 1和PERT 87 - 15)在物理上相隔约60千碱基对。通过使用LINKAGE程序,在49个信息丰富的DMD家系中进行了连锁研究。在所研究的位点之间发生交换的有4个家系。发现重组率为4%(支持区间[Zmax - 1] 1% - 10%),比预期高54倍(支持区间14 - 135倍),最大lod分数为13.50。这些数据表明DXS164内存在一个重组热点。