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Article: Deletions, duplications and novel restriction fragment length polymorphism in Duchenne and Becker muscular dystrophies

TitleDeletions, duplications and novel restriction fragment length polymorphism in Duchenne and Becker muscular dystrophies
Authors
KeywordsBecker muscular dystrophy
Duchenne muscular dystrophy
Gene mutations
Restriction fragment length polymorphism
Issue Date1992
PublisherBlackwell Munksgaard. The Journal's web site is located at http://www.blackwellpublishing.com/journals/CGE
Citation
Clinical Genetics, 1992, v. 41 n. 5, p. 252-258 How to Cite?
AbstractTo 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 14kb of the dystrophin 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 1-2a 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 undescribed 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.
Persistent Identifierhttp://hdl.handle.net/10722/143492
ISSN
2015 Impact Factor: 3.892
2015 SCImago Journal Rankings: 1.630
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorLau, YLen_HK
dc.contributor.authorSrivastava, Gen_HK
dc.contributor.authorWong, Ven_HK
dc.contributor.authorLiu, YTen_HK
dc.contributor.authorHo, FCSen_HK
dc.contributor.authorYeung, CYen_HK
dc.date.accessioned2011-12-12T03:51:08Z-
dc.date.available2011-12-12T03:51:08Z-
dc.date.issued1992en_HK
dc.identifier.citationClinical Genetics, 1992, v. 41 n. 5, p. 252-258en_HK
dc.identifier.issn0009-9163en_HK
dc.identifier.urihttp://hdl.handle.net/10722/143492-
dc.description.abstractTo 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 14kb of the dystrophin 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 1-2a 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 undescribed 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.en_HK
dc.languageengen_US
dc.publisherBlackwell Munksgaard. The Journal's web site is located at http://www.blackwellpublishing.com/journals/CGEen_HK
dc.relation.ispartofClinical Geneticsen_HK
dc.subjectBecker muscular dystrophyen_HK
dc.subjectDuchenne muscular dystrophyen_HK
dc.subjectGene mutationsen_HK
dc.subjectRestriction fragment length polymorphismen_HK
dc.subject.meshAsian Continental Ancestry Group/*geneticsen_US
dc.subject.meshBlotting, Southernen_US
dc.subject.mesh*Chromosome Deletionen_US
dc.subject.meshDensitometry/methodsen_US
dc.subject.meshHumansen_US
dc.subject.meshLinkage (Genetics)/*geneticsen_US
dc.subject.meshMultigene Family/*geneticsen_US
dc.subject.meshMuscular Dystrophies/*geneticsen_US
dc.subject.meshMutation/geneticsen_US
dc.subject.mesh*Polymorphism, Restriction Fragment Lengthen_US
dc.titleDeletions, duplications and novel restriction fragment length polymorphism in Duchenne and Becker muscular dystrophiesen_HK
dc.typeArticleen_HK
dc.identifier.emailLau, YL:lauylung@hkucc.hku.hken_HK
dc.identifier.emailSrivastava, G:gopesh@pathology.hku.hken_HK
dc.identifier.emailWong, V:vcnwong@hku.hken_HK
dc.identifier.authorityLau, YL=rp00361en_HK
dc.identifier.authoritySrivastava, G=rp00365en_HK
dc.identifier.authorityWong, V=rp00334en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.pmid1351430-
dc.identifier.scopuseid_2-s2.0-0026556239en_HK
dc.identifier.volume41en_HK
dc.identifier.issue5en_HK
dc.identifier.spage252en_HK
dc.identifier.epage258en_HK
dc.identifier.isiWOS:A1992HP13600007-
dc.publisher.placeDenmarken_HK
dc.identifier.scopusauthoridLau, YL=7201403380en_HK
dc.identifier.scopusauthoridSrivastava, G=7202242238en_HK
dc.identifier.scopusauthoridWong, V=7202525632en_HK
dc.identifier.scopusauthoridLiu, YT=26643293600en_HK
dc.identifier.scopusauthoridHo, FCS=7103408147en_HK
dc.identifier.scopusauthoridYeung, CY=7201354144en_HK

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