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Article: Molecular analysis of the human laminin α3a chain gene (LAMA3a): A strategy for mutation identification and DNA-based prenatal diagnosis in Herlitz junctional epidermolysis bullosa

TitleMolecular analysis of the human laminin α3a chain gene (LAMA3a): A strategy for mutation identification and DNA-based prenatal diagnosis in Herlitz junctional epidermolysis bullosa
Authors
Issue Date1998
PublisherNature Publishing Group. The Journal's web site is located at http://www.nature.com/labinvest/
Citation
Laboratory Investigation, 1998, v. 78 n. 9, p. 1067-1076 How to Cite?
AbstractMutations in the genes (LAMA3, LAMB3, and LAMC2) encoding the subunit polypeptides of the cutaneous basement membrane zone protein laminin 5 have been reported in different forms of junctional epidermolysis bullosa (JEB), an inherited blistering skin disease. In this study, we present the complete exon-intron organization of the 'a' transcript of the laminin α3 chain gene, LAMA3a, which is expressed primarily in the skin: We have performed fine- resolution mapping of this gene on chromosome 18q11.2 using a human-hamster radiation hybrid panel. We have also developed a mutation-detection strategy based on the exon-intron structure of LAMA3a. This strategy, based on PCR amplification of genomic sequences, followed by heteroduplex scanning and automated nucleotide sequencing, was used for successful mutation screening in a family with the lethal (Heditz) type of JEB, and two novel LAMA3 mutations were identified in the proband. The mutations consisted of a single-base pair deletion in LAMA3a exon all on the paternal allele, designated 1239delC, and a two-base pair deletion in LAMA3a exon A23 on the maternal allele, designated 2959delGG. This information was also used for DNA-based prenatal testing in a subsequent pregnancy in this family. Collectively, these results attest to our expanding capability to elucidate the genetic basis of various forms of epidermolysis bullosa using molecular techniques.
Persistent Identifierhttp://hdl.handle.net/10722/180629
ISSN
2015 Impact Factor: 4.202
2015 SCImago Journal Rankings: 2.133
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorPulkkinen, Len_US
dc.contributor.authorCserhalmiFriedman, PBen_US
dc.contributor.authorTang, Men_US
dc.contributor.authorRyan, MCen_US
dc.contributor.authorUitto, Jen_US
dc.contributor.authorChristiano, AMen_US
dc.date.accessioned2013-01-28T01:40:46Z-
dc.date.available2013-01-28T01:40:46Z-
dc.date.issued1998en_US
dc.identifier.citationLaboratory Investigation, 1998, v. 78 n. 9, p. 1067-1076en_US
dc.identifier.issn0023-6837en_US
dc.identifier.urihttp://hdl.handle.net/10722/180629-
dc.description.abstractMutations in the genes (LAMA3, LAMB3, and LAMC2) encoding the subunit polypeptides of the cutaneous basement membrane zone protein laminin 5 have been reported in different forms of junctional epidermolysis bullosa (JEB), an inherited blistering skin disease. In this study, we present the complete exon-intron organization of the 'a' transcript of the laminin α3 chain gene, LAMA3a, which is expressed primarily in the skin: We have performed fine- resolution mapping of this gene on chromosome 18q11.2 using a human-hamster radiation hybrid panel. We have also developed a mutation-detection strategy based on the exon-intron structure of LAMA3a. This strategy, based on PCR amplification of genomic sequences, followed by heteroduplex scanning and automated nucleotide sequencing, was used for successful mutation screening in a family with the lethal (Heditz) type of JEB, and two novel LAMA3 mutations were identified in the proband. The mutations consisted of a single-base pair deletion in LAMA3a exon all on the paternal allele, designated 1239delC, and a two-base pair deletion in LAMA3a exon A23 on the maternal allele, designated 2959delGG. This information was also used for DNA-based prenatal testing in a subsequent pregnancy in this family. Collectively, these results attest to our expanding capability to elucidate the genetic basis of various forms of epidermolysis bullosa using molecular techniques.en_US
dc.languageengen_US
dc.publisherNature Publishing Group. The Journal's web site is located at http://www.nature.com/labinvest/en_US
dc.relation.ispartofLaboratory Investigationen_US
dc.subject.meshAnimalsen_US
dc.subject.meshBase Sequenceen_US
dc.subject.meshChromosome Mappingen_US
dc.subject.meshCricetinaeen_US
dc.subject.meshDna - Geneticsen_US
dc.subject.meshDna Mutational Analysisen_US
dc.subject.meshEpidermolysis Bullosa, Junctional - Diagnosis - Geneticsen_US
dc.subject.meshExons - Geneticsen_US
dc.subject.meshFemaleen_US
dc.subject.meshHumansen_US
dc.subject.meshInfanten_US
dc.subject.meshIntrons - Geneticsen_US
dc.subject.meshLaminin - Geneticsen_US
dc.subject.meshMaleen_US
dc.subject.meshMolecular Sequence Dataen_US
dc.subject.meshNucleic Acid Heteroduplexes - Geneticsen_US
dc.subject.meshPregnancyen_US
dc.subject.meshPrenatal Diagnosis - Methodsen_US
dc.titleMolecular analysis of the human laminin α3a chain gene (LAMA3a): A strategy for mutation identification and DNA-based prenatal diagnosis in Herlitz junctional epidermolysis bullosaen_US
dc.typeArticleen_US
dc.identifier.emailTang, M: mhytang@hkucc.hku.hken_US
dc.identifier.authorityTang, M=rp01701en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.pmid9759651-
dc.identifier.scopuseid_2-s2.0-0031657973en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0031657973&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume78en_US
dc.identifier.issue9en_US
dc.identifier.spage1067en_US
dc.identifier.epage1076en_US
dc.identifier.isiWOS:000076062300004-
dc.publisher.placeUnited Kingdomen_US
dc.identifier.scopusauthoridPulkkinen, L=35417739700en_US
dc.identifier.scopusauthoridCserhalmiFriedman, PB=6701507708en_US
dc.identifier.scopusauthoridTang, M=8943401300en_US
dc.identifier.scopusauthoridRyan, MC=35555845600en_US
dc.identifier.scopusauthoridUitto, J=35413538400en_US
dc.identifier.scopusauthoridChristiano, AM=7102520032en_US

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