Dandieu S, Guérin P, Lucotte G
C R Acad Sci III. 1985;301(6):271-6.
Restriction polymorphisms of three human genomic probes (RC8, L1-28 and p754), located on the short arm of the X chromosome, are studied in a French population panel after digestion with taq I and Pst I endonucleases. Informativeness of these three probes in that population are, respectively, 0.18, 0.41 and 0.50. Two kinds of strategies for utilizing these polymorphisms to prenatal and carrier diagnosis of the Duchenne muscular dystrophy (DMD) are given. The last probe available, p754, is of great interest, cumulating advantages that being nearly the DMD gene (3 centiMorgans) and presenting the maximal informativeness theoretically possible.
对位于X染色体短臂上的三种人类基因组探针(RC8、L1 - 28和p754)的限制性多态性进行了研究,该研究在一个法国人群样本中用Taq I和Pst I核酸内切酶消化后展开。这三种探针在该人群中的信息含量分别为0.18、0.41和0.50。给出了利用这些多态性进行杜氏肌营养不良症(DMD)产前诊断和携带者诊断的两种策略。最后一种可用探针p754非常有意义,它兼具多项优势,既距离DMD基因很近(3厘摩),理论上又具有最大的信息含量。