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Deletions, duplications and novel restriction fragment length polymorphism in Duchenne and Becker muscular dystrophies
Author(s) -
Lau Y. L.,
Srlvastava G.,
Wong V.,
Liu Y. T.,
He F. C. S.,
Yeung C. Y.
Publication year - 1992
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1992.tb03676.x
Subject(s) - restriction fragment length polymorphism , gene duplication , biology , genetics , hindiii , duchenne muscular dystrophy , restriction site , restriction fragment , phenotype , ecori , microbiology and biotechnology , gene , restriction enzyme , genotype
To determine the mutations of Southern Chinese with Duchenne and Becker muscular dystrophies (DMD, BMD), we analysed 28 DMD and BMD patients in 24 unrelated families for intragenic deletions and duplications by using cDNA probes covering the entire 14 kb of the dystro‐phin gene. Deletions were detected in nine unrelated patients (seven patients by probe 8 and two by probe 2b‐3). Gene duplications were detected by probe l‐2a in two patients with the duplication bands confirmed in both Hind III and Bgl II digests and by densitometry. A third patient was found to have a junction fragment with Bgl II and a duplication band with Hind III by probe 5b‐7. Therefore 50% of the 24 unrelated families were found to have either deletions or duplications. A previously undescri‐bed restriction fragment length polymorphism (RFLP) was found in one family with probe 5b‐7 in Bgl II digests which was found to segregate with the disease phenotype. This new RFLP was not detected in over 70 unrelated X chromosomes we have examined so far, and appeared to be “private” for this family. The presence of this new restriction site may or may not be the mutation responsible for the disease phenotype.