Heilig R, Oberlé I, Arveiler B, Hanauer A, Vidaud M, Mandel J L
LGME and INSERM U184, Faculté de Médecine, Strasbourg, France.
Am J Med Genet. 1988 May-Jun;30(1-2):543-50. doi: 10.1002/ajmg.1320300156.
We report the characteristics of two new probes that detect BclI RFLPs useful for analysis of fragile X families. With these two probes and a single blot, 34% of women are heterozygous both for the proximal marker DXS105 (closer to the fragile X locus than the factor IX gene) and for the distal markers DXS52 or the factor VIII gene. Combined with the analysis of previously described polymorphic markers, it is possible to have a majority of families fully informative for flanking markers using a limited number of probes and restriction digests.
我们报告了两种新探针的特性,它们可检测用于脆性X家族分析的BclI限制性片段长度多态性(RFLP)。使用这两种探针和一张印迹,34%的女性对于近端标记DXS105(比因子IX基因更靠近脆性X位点)以及远端标记DXS52或因子VIII基因均为杂合子。结合对先前描述的多态性标记的分析,使用有限数量的探针和限制性酶切,有可能使大多数家族对于侧翼标记具有完全信息性。