Strategy for molecular diagnosis of Duchenne muscular dystrophy: alleles frequency in RFLPs detected with X-linked probes in normal Japanese
Fujishita, S.; Shibuya, N.; Sugino, S.; Matsumoto, T.; Niikawa, N.
Rinsho Shinkeigaku 29(5): 554-557
1989
ISSN/ISBN: 0009-918X PMID: 2571441 Document Number: 344005
Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder. Recently it has been suggested that the protein named "dystrophin" is not produced in the DMD muscle because of their mutant of defective DMD gene. Recent molecular studies using subclones from the DMD-cDNA as probes revealed a DNA deletion in about a half of the DMD patients. Since not all patients showed deletion, segregation analysis with restriction fragment length polymorphisms (RFLPs) is still necessary and important for diagnosis not only patients but female carriers as well. Therefore, we tried to detect RFLPs with the use of many probes localized within and/or flanked with the DMD gene and made a protocol for the diagnosis with our RFLP data. Among 50 normal Japanese females, the frequencies of rare alleles which identified with enzyme/probe combinations in each were as follows (RFLPs practically available for diagnosis are underlined): 0.38 for p782/EcoRI; 0.14 for p99-6/Pst I: 0.45 for pJ66-HI/Pst I: 0.16 for pERT87-30/Bgl II; 0.44 for 87-15/Xmn I: 0.07 for 87-15/Taq I; 0.33 for 87-8/Taq I; 0.44 for 87-1/Xmn I; 0.45 for 87-1/Mva I; 0.43 for Xj-1.1/Taq I; 0.34 for 754-11/EcoR I; 0.41 for 11.28/Taq I. Some of our results were different from the Caucasian both on the allele frequencies and the restriction fragment length. We proposed a diagnostic protocol of DMD and it's carriers in Japan. Firstly, segregation analysis should be performed with five different combinations of double probe/enzyme, such as Yj-1,.1/L1.28/Taq I, ERT87-1/87-15/Xmn I, 87-1/Mva I, J66-HI/99-6/Pst I, and 782/754-11/EcoR I.