File Download
 
Links for fulltext
(May Require Subscription)
 
Supplementary

Article: Mutation analysis for heterozygote detection and the prenatal diagnosis of cystic fibrosis
  • Basic View
  • Metadata View
  • XML View
TitleMutation analysis for heterozygote detection and the prenatal diagnosis of cystic fibrosis
 
AuthorsLemna, WK1
Feldman, GL1
Kerem, B1
Fernbach, SD1
Zevkovich, EP1
O'Brien, WE1
Riordan, JR1
Collins, FS1
Tsui, LC1
Beaudet, AL1
 
Issue Date1990
 
PublisherMassachusetts Medical Society. The Journal's web site is located at http://content.nejm.org/
 
CitationNew England Journal Of Medicine, 1990, v. 322 n. 5, p. 291-296 [How to Cite?]
DOI: http://dx.doi.org/10.1056/NEJM199002013220503
 
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.
 
ISSN0028-4793
2012 Impact Factor: 51.658
2012 SCImago Journal Rankings: 10.160
 
DOIhttp://dx.doi.org/10.1056/NEJM199002013220503
 
ISI Accession Number IDWOS:A1990CL19900003
 
DC FieldValue
dc.contributor.authorLemna, WK
 
dc.contributor.authorFeldman, GL
 
dc.contributor.authorKerem, B
 
dc.contributor.authorFernbach, SD
 
dc.contributor.authorZevkovich, EP
 
dc.contributor.authorO'Brien, WE
 
dc.contributor.authorRiordan, JR
 
dc.contributor.authorCollins, FS
 
dc.contributor.authorTsui, LC
 
dc.contributor.authorBeaudet, AL
 
dc.date.accessioned2007-01-08T02:33:51Z
 
dc.date.available2007-01-08T02:33:51Z
 
dc.date.issued1990
 
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.
 
dc.description.naturepublished_or_final_version
 
dc.format.extent1468578 bytes
 
dc.format.extent30208 bytes
 
dc.format.mimetypeapplication/pdf
 
dc.format.mimetypeapplication/msword
 
dc.identifier.citationNew England Journal Of Medicine, 1990, v. 322 n. 5, p. 291-296 [How to Cite?]
DOI: http://dx.doi.org/10.1056/NEJM199002013220503
 
dc.identifier.doihttp://dx.doi.org/10.1056/NEJM199002013220503
 
dc.identifier.epage296
 
dc.identifier.isiWOS:A1990CL19900003
 
dc.identifier.issn0028-4793
2012 Impact Factor: 51.658
2012 SCImago Journal Rankings: 10.160
 
dc.identifier.issue5
 
dc.identifier.openurl
 
dc.identifier.pmid2296270
 
dc.identifier.scopuseid_2-s2.0-0025189782
 
dc.identifier.spage291
 
dc.identifier.urihttp://hdl.handle.net/10722/42292
 
dc.identifier.volume322
 
dc.languageeng
 
dc.publisherMassachusetts Medical Society. The Journal's web site is located at http://content.nejm.org/
 
dc.publisher.placeUnited States
 
dc.relation.ispartofNew England Journal of Medicine
 
dc.rightsNew England journal of medicine. Copyright © Massachusetts Medical Society.
 
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License
 
dc.subject.meshBase sequence
 
dc.subject.meshCystic fibrosis - diagnosis - genetics
 
dc.subject.meshDna mutational analysis
 
dc.subject.meshFetal diseases - diagnosis
 
dc.subject.meshHaplotypes
 
dc.titleMutation analysis for heterozygote detection and the prenatal diagnosis of cystic fibrosis
 
dc.typeArticle
 
<?xml encoding="utf-8" version="1.0"?>
<item><contributor.author>Lemna, WK</contributor.author>
<contributor.author>Feldman, GL</contributor.author>
<contributor.author>Kerem, B</contributor.author>
<contributor.author>Fernbach, SD</contributor.author>
<contributor.author>Zevkovich, EP</contributor.author>
<contributor.author>O&apos;Brien, WE</contributor.author>
<contributor.author>Riordan, JR</contributor.author>
<contributor.author>Collins, FS</contributor.author>
<contributor.author>Tsui, LC</contributor.author>
<contributor.author>Beaudet, AL</contributor.author>
<date.accessioned>2007-01-08T02:33:51Z</date.accessioned>
<date.available>2007-01-08T02:33:51Z</date.available>
<date.issued>1990</date.issued>
<identifier.citation>New England Journal Of Medicine, 1990, v. 322 n. 5, p. 291-296</identifier.citation>
<identifier.issn>0028-4793</identifier.issn>
<identifier.uri>http://hdl.handle.net/10722/42292</identifier.uri>
<description.abstract>The 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.</description.abstract>
<format.extent>1468578 bytes</format.extent>
<format.extent>30208 bytes</format.extent>
<format.mimetype>application/pdf</format.mimetype>
<format.mimetype>application/msword</format.mimetype>
<language>eng</language>
<publisher>Massachusetts Medical Society. The Journal&apos;s web site is located at http://content.nejm.org/</publisher>
<relation.ispartof>New England Journal of Medicine</relation.ispartof>
<rights>New England journal of medicine. Copyright &#169; Massachusetts Medical Society.</rights>
<rights>Creative Commons: Attribution 3.0 Hong Kong License</rights>
<subject.mesh>Base sequence</subject.mesh>
<subject.mesh>Cystic fibrosis - diagnosis - genetics</subject.mesh>
<subject.mesh>Dna mutational analysis</subject.mesh>
<subject.mesh>Fetal diseases - diagnosis</subject.mesh>
<subject.mesh>Haplotypes</subject.mesh>
<title>Mutation analysis for heterozygote detection and the prenatal diagnosis of cystic fibrosis</title>
<type>Article</type>
<identifier.openurl>http://library.hku.hk:4550/resserv?sid=HKU:IR&amp;issn=0028-4793&amp;volume=322&amp;issue=5&amp;spage=291&amp;epage=296&amp;date=1990&amp;atitle=Mutation+analysis+for+heterozygote+detection+and+prenatal+diagnosis+of+cystic+fibrosis</identifier.openurl>
<description.nature>published_or_final_version</description.nature>
<identifier.doi>10.1056/NEJM199002013220503</identifier.doi>
<identifier.pmid>2296270</identifier.pmid>
<identifier.scopus>eid_2-s2.0-0025189782</identifier.scopus>
<identifier.volume>322</identifier.volume>
<identifier.issue>5</identifier.issue>
<identifier.spage>291</identifier.spage>
<identifier.epage>296</identifier.epage>
<identifier.isi>WOS:A1990CL19900003</identifier.isi>
<publisher.place>United States</publisher.place>
<bitstream.url>http://hub.hku.hk/bitstream/10722/42292/1/120932.pdf</bitstream.url>
</item>
Author Affiliations
  1. Baylor College of Medicine