File Download
  Links for fulltext
     (May Require Subscription)
Supplementary

Article: Mutation analysis for heterozygote detection and the prenatal diagnosis of cystic fibrosis

TitleMutation analysis for heterozygote detection and the prenatal diagnosis of cystic fibrosis
Authors
Issue Date1990
PublisherMassachusetts Medical Society. The Journal's web site is located at http://content.nejm.org/
Citation
New England Journal Of Medicine, 1990, v. 322 n. 5, p. 291-296 How to Cite?
AbstractThe cystic fibrosis gene was recently cloned, and a three-base deletion removing phenylalanine 508 from the coding region was identified as the mutation on the majority of cystic fibrosis chromosomes. We used the polymerase chain reaction and hybridization with allele-specific oligonucleotides to analyze the presence or absence of this mutation on 439 cystic fibrosis chromosomes and 433 normal chromosomes from non-Ashkenazic white families. This mutation was present on 75.8 percent of the cystic fibrosis chromosomes. Using the DNA markers XV-2c and KM-19, we found that 96 percent of cystic fibrosis chromosomes with the mutation had a single DNA haplotype that occurs frequently with cystic fibrosis chromosomes. This haplotype was also found on 54 percent of the cystic fibrosis chromosomes without the three-base deletion. The three-base deletion was found on only 30.3 percent of cystic fibrosis chromosomes from Ashkenazic families, although the common cystic fibrosis haplotype was present on 97 percent of cystic fibrosis chromosomes from Ashkenazic families. The ability to detect the common mutation causing cystic fibrosis represents a major improvement in prenatal diagnosis and heterozygote detection, particularly in families in which no DNA sample is available from the affected child, and provides an improved method of testing for spouses of carriers of cystic fibrosis. Mutation analysis introduces the possibility of population-based screening programs for carriers, which on the basis of the sample in this study, would currently identify about 57 percent of the non-Ashkenazic white couples at risk.
Persistent Identifierhttp://hdl.handle.net/10722/42292
ISSN
2015 Impact Factor: 59.558
2015 SCImago Journal Rankings: 14.619
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorLemna, WKen_HK
dc.contributor.authorFeldman, GLen_HK
dc.contributor.authorKerem, Ben_HK
dc.contributor.authorFernbach, SDen_HK
dc.contributor.authorZevkovich, EPen_HK
dc.contributor.authorO'Brien, WEen_HK
dc.contributor.authorRiordan, JRen_HK
dc.contributor.authorCollins, FSen_HK
dc.contributor.authorTsui, LCen_HK
dc.contributor.authorBeaudet, ALen_HK
dc.date.accessioned2007-01-08T02:33:51Z-
dc.date.available2007-01-08T02:33:51Z-
dc.date.issued1990en_HK
dc.identifier.citationNew England Journal Of Medicine, 1990, v. 322 n. 5, p. 291-296en_HK
dc.identifier.issn0028-4793en_HK
dc.identifier.urihttp://hdl.handle.net/10722/42292-
dc.description.abstractThe cystic fibrosis gene was recently cloned, and a three-base deletion removing phenylalanine 508 from the coding region was identified as the mutation on the majority of cystic fibrosis chromosomes. We used the polymerase chain reaction and hybridization with allele-specific oligonucleotides to analyze the presence or absence of this mutation on 439 cystic fibrosis chromosomes and 433 normal chromosomes from non-Ashkenazic white families. This mutation was present on 75.8 percent of the cystic fibrosis chromosomes. Using the DNA markers XV-2c and KM-19, we found that 96 percent of cystic fibrosis chromosomes with the mutation had a single DNA haplotype that occurs frequently with cystic fibrosis chromosomes. This haplotype was also found on 54 percent of the cystic fibrosis chromosomes without the three-base deletion. The three-base deletion was found on only 30.3 percent of cystic fibrosis chromosomes from Ashkenazic families, although the common cystic fibrosis haplotype was present on 97 percent of cystic fibrosis chromosomes from Ashkenazic families. The ability to detect the common mutation causing cystic fibrosis represents a major improvement in prenatal diagnosis and heterozygote detection, particularly in families in which no DNA sample is available from the affected child, and provides an improved method of testing for spouses of carriers of cystic fibrosis. Mutation analysis introduces the possibility of population-based screening programs for carriers, which on the basis of the sample in this study, would currently identify about 57 percent of the non-Ashkenazic white couples at risk.en_HK
dc.format.extent1468578 bytes-
dc.format.extent30208 bytes-
dc.format.mimetypeapplication/pdf-
dc.format.mimetypeapplication/msword-
dc.languageengen_HK
dc.publisherMassachusetts Medical Society. The Journal's web site is located at http://content.nejm.org/en_HK
dc.relation.ispartofNew England Journal of Medicineen_HK
dc.rightsNew England journal of medicine. Copyright © Massachusetts Medical Society.en_HK
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License-
dc.subject.meshBase sequenceen_HK
dc.subject.meshCystic fibrosis - diagnosis - geneticsen_HK
dc.subject.meshDna mutational analysisen_HK
dc.subject.meshFetal diseases - diagnosisen_HK
dc.subject.meshHaplotypesen_HK
dc.titleMutation analysis for heterozygote detection and the prenatal diagnosis of cystic fibrosisen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0028-4793&volume=322&issue=5&spage=291&epage=296&date=1990&atitle=Mutation+analysis+for+heterozygote+detection+and+prenatal+diagnosis+of+cystic+fibrosisen_HK
dc.identifier.emailTsui, LC: tsuilc@hkucc.hku.hken_HK
dc.identifier.authorityTsui, LC=rp00058en_HK
dc.description.naturepublished_or_final_versionen_HK
dc.identifier.doi10.1056/NEJM199002013220503-
dc.identifier.pmid2296270-
dc.identifier.scopuseid_2-s2.0-0025189782en_HK
dc.identifier.volume322en_HK
dc.identifier.issue5en_HK
dc.identifier.spage291en_HK
dc.identifier.epage296en_HK
dc.identifier.isiWOS:A1990CL19900003-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridLemna, WK=6506413347en_HK
dc.identifier.scopusauthoridFeldman, GL=7102761436en_HK
dc.identifier.scopusauthoridKerem, B=35376353800en_HK
dc.identifier.scopusauthoridFernbach, SD=7006241317en_HK
dc.identifier.scopusauthoridZevkovich, EP=7801409743en_HK
dc.identifier.scopusauthoridO'Brien, WE=7402520472en_HK
dc.identifier.scopusauthoridRiordan, JR=7202229758en_HK
dc.identifier.scopusauthoridCollins, FS=7403031285en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK
dc.identifier.scopusauthoridBeaudet, AL=7102581677en_HK

Export via OAI-PMH Interface in XML Formats


OR


Export to Other Non-XML Formats