MersV1, PubMed, Corpus, bibRecord, 002A85

Use of oligonucleotide hybridization in the characterization of a beta zero-thalassemia gene (beta 37 TGG----TGA) in a Saudi Arabian family.

Identifieur interne : 002A85 ( PubMed/Corpus ); précédent : 002A84; suivant : 002A86

Use of oligonucleotide hybridization in the characterization of a beta zero-thalassemia gene (beta 37 TGG----TGA) in a Saudi Arabian family.

Auteurs : C D Boehm ; C E Dowling ; P G Waber ; P J Giardina ; H H Kazazian

Source :

Blood [ 0006-4971 ] ; 1986.

RBID : pubmed:3006832

English descriptors

KwdEn :
- Base Sequence, DNA (genetics), DNA Restriction Enzymes, Female, Haploidy, Humans, Male, Mutation, Nucleic Acid Hybridization, Oligonucleotides (genetics), Polymorphism, Genetic, Saudi Arabia, Thalassemia (blood), Thalassemia (genetics).
MESH :
- chemical , genetics : DNA, Oligonucleotides.
- geographic : Saudi Arabia.
- blood : Thalassemia.
- genetics : Thalassemia.
- Base Sequence, DNA Restriction Enzymes, Female, Haploidy, Humans, Male, Mutation, Nucleic Acid Hybridization, Polymorphism, Genetic.

Abstract

Analysis of restriction site polymorphisms in the beta-globin gene cluster of a Saudi Arabian female with beta zero-thalassemia demonstrated that both of her beta-globin genes were missing a nonpolymorphic AvaII site in exon 2. Examination of the normal nucleotide sequence surrounding this AvaII site revealed that either of two nucleotide substitutions, TGG----TAG or TGG----TGA, could produce a nonsense codon at codon 37 and eliminate the AvaII site. Consequently, two oligonucleotides (19-mers spanning codons 36 through 41 and containing either TAG or TGA at codon 37) were synthesized and hybridized against genomic DNA of the proband and her family. Specific hybridization with one of the oligomers demonstrated that the patient's beta o-thalassemia was the result of homozygosity for the TGG----TGA mutation at codon 37. In certain cases, oligonucleotide hybridization using genomic DNA may obviate the need for gene cloning and sequencing in the characterization of point mutations.

PubMed: 3006832

Links to Exploration step

pubmed:3006832

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Use of oligonucleotide hybridization in the characterization of a beta zero-thalassemia gene (beta 37 TGG----TGA) in a Saudi Arabian family.</title>
<author><name sortKey="Boehm, C D" sort="Boehm, C D" uniqKey="Boehm C" first="C D" last="Boehm">C D Boehm</name>
</author>
<author><name sortKey="Dowling, C E" sort="Dowling, C E" uniqKey="Dowling C" first="C E" last="Dowling">C E Dowling</name>
</author>
<author><name sortKey="Waber, P G" sort="Waber, P G" uniqKey="Waber P" first="P G" last="Waber">P G Waber</name>
</author>
<author><name sortKey="Giardina, P J" sort="Giardina, P J" uniqKey="Giardina P" first="P J" last="Giardina">P J Giardina</name>
</author>
<author><name sortKey="Kazazian, H H" sort="Kazazian, H H" uniqKey="Kazazian H" first="H H" last="Kazazian">H H Kazazian</name>
</author>
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<date when="1986">1986</date>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Use of oligonucleotide hybridization in the characterization of a beta zero-thalassemia gene (beta 37 TGG----TGA) in a Saudi Arabian family.</title>
<author><name sortKey="Boehm, C D" sort="Boehm, C D" uniqKey="Boehm C" first="C D" last="Boehm">C D Boehm</name>
</author>
<author><name sortKey="Dowling, C E" sort="Dowling, C E" uniqKey="Dowling C" first="C E" last="Dowling">C E Dowling</name>
</author>
<author><name sortKey="Waber, P G" sort="Waber, P G" uniqKey="Waber P" first="P G" last="Waber">P G Waber</name>
</author>
<author><name sortKey="Giardina, P J" sort="Giardina, P J" uniqKey="Giardina P" first="P J" last="Giardina">P J Giardina</name>
</author>
<author><name sortKey="Kazazian, H H" sort="Kazazian, H H" uniqKey="Kazazian H" first="H H" last="Kazazian">H H Kazazian</name>
</author>
</analytic>
<series><title level="j">Blood</title>
<idno type="ISSN">0006-4971</idno>
<imprint><date when="1986" type="published">1986</date>
</imprint>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Base Sequence</term>
<term>DNA (genetics)</term>
<term>DNA Restriction Enzymes</term>
<term>Female</term>
<term>Haploidy</term>
<term>Humans</term>
<term>Male</term>
<term>Mutation</term>
<term>Nucleic Acid Hybridization</term>
<term>Oligonucleotides (genetics)</term>
<term>Polymorphism, Genetic</term>
<term>Saudi Arabia</term>
<term>Thalassemia (blood)</term>
<term>Thalassemia (genetics)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>DNA</term>
<term>Oligonucleotides</term>
</keywords>
<keywords scheme="MESH" type="geographic" xml:lang="en"><term>Saudi Arabia</term>
</keywords>
<keywords scheme="MESH" qualifier="blood" xml:lang="en"><term>Thalassemia</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Thalassemia</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Base Sequence</term>
<term>DNA Restriction Enzymes</term>
<term>Female</term>
<term>Haploidy</term>
<term>Humans</term>
<term>Male</term>
<term>Mutation</term>
<term>Nucleic Acid Hybridization</term>
<term>Polymorphism, Genetic</term>
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<front><div type="abstract" xml:lang="en">Analysis of restriction site polymorphisms in the beta-globin gene cluster of a Saudi Arabian female with beta zero-thalassemia demonstrated that both of her beta-globin genes were missing a nonpolymorphic AvaII site in exon 2. Examination of the normal nucleotide sequence surrounding this AvaII site revealed that either of two nucleotide substitutions, TGG----TAG or TGG----TGA, could produce a nonsense codon at codon 37 and eliminate the AvaII site. Consequently, two oligonucleotides (19-mers spanning codons 36 through 41 and containing either TAG or TGA at codon 37) were synthesized and hybridized against genomic DNA of the proband and her family. Specific hybridization with one of the oligomers demonstrated that the patient's beta o-thalassemia was the result of homozygosity for the TGG----TGA mutation at codon 37. In certain cases, oligonucleotide hybridization using genomic DNA may obviate the need for gene cloning and sequencing in the characterization of point mutations.</div>
</front>
</TEI>
<pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">3006832</PMID>
<DateCompleted><Year>1986</Year>
<Month>05</Month>
<Day>14</Day>
</DateCompleted>
<DateRevised><Year>2006</Year>
<Month>11</Month>
<Day>15</Day>
</DateRevised>
<Article PubModel="Print"><Journal><ISSN IssnType="Print">0006-4971</ISSN>
<JournalIssue CitedMedium="Print"><Volume>67</Volume>
<Issue>4</Issue>
<PubDate><Year>1986</Year>
<Month>Apr</Month>
</PubDate>
</JournalIssue>
<Title>Blood</Title>
<ISOAbbreviation>Blood</ISOAbbreviation>
</Journal>
<ArticleTitle>Use of oligonucleotide hybridization in the characterization of a beta zero-thalassemia gene (beta 37 TGG----TGA) in a Saudi Arabian family.</ArticleTitle>
<Pagination><MedlinePgn>1185-8</MedlinePgn>
</Pagination>
<Abstract><AbstractText>Analysis of restriction site polymorphisms in the beta-globin gene cluster of a Saudi Arabian female with beta zero-thalassemia demonstrated that both of her beta-globin genes were missing a nonpolymorphic AvaII site in exon 2. Examination of the normal nucleotide sequence surrounding this AvaII site revealed that either of two nucleotide substitutions, TGG----TAG or TGG----TGA, could produce a nonsense codon at codon 37 and eliminate the AvaII site. Consequently, two oligonucleotides (19-mers spanning codons 36 through 41 and containing either TAG or TGA at codon 37) were synthesized and hybridized against genomic DNA of the proband and her family. Specific hybridization with one of the oligomers demonstrated that the patient's beta o-thalassemia was the result of homozygosity for the TGG----TGA mutation at codon 37. In certain cases, oligonucleotide hybridization using genomic DNA may obviate the need for gene cloning and sequencing in the characterization of point mutations.</AbstractText>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Boehm</LastName>
<ForeName>C D</ForeName>
<Initials>CD</Initials>
</Author>
<Author ValidYN="Y"><LastName>Dowling</LastName>
<ForeName>C E</ForeName>
<Initials>CE</Initials>
</Author>
<Author ValidYN="Y"><LastName>Waber</LastName>
<ForeName>P G</ForeName>
<Initials>PG</Initials>
</Author>
<Author ValidYN="Y"><LastName>Giardina</LastName>
<ForeName>P J</ForeName>
<Initials>PJ</Initials>
</Author>
<Author ValidYN="Y"><LastName>Kazazian</LastName>
<ForeName>H H</ForeName>
<Initials>HH</Initials>
<Suffix>Jr</Suffix>
</Author>
</AuthorList>
<Language>eng</Language>
<PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType>
</PublicationTypeList>
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<MedlineJournalInfo><Country>United States</Country>
<MedlineTA>Blood</MedlineTA>
<NlmUniqueID>7603509</NlmUniqueID>
<ISSNLinking>0006-4971</ISSNLinking>
</MedlineJournalInfo>
<ChemicalList><Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="D009841">Oligonucleotides</NameOfSubstance>
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<Chemical><RegistryNumber>9007-49-2</RegistryNumber>
<NameOfSubstance UI="D004247">DNA</NameOfSubstance>
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<Chemical><RegistryNumber>EC 3.1.21.-</RegistryNumber>
<NameOfSubstance UI="D004262">DNA Restriction Enzymes</NameOfSubstance>
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</ChemicalList>
<CitationSubset>AIM</CitationSubset>
<CitationSubset>IM</CitationSubset>
<CommentsCorrectionsList><CommentsCorrections RefType="ErratumIn"><RefSource>Blood 1986 Jul;68(1):323</RefSource>
</CommentsCorrections>
</CommentsCorrectionsList>
<MeshHeadingList><MeshHeading><DescriptorName UI="D001483" MajorTopicYN="N">Base Sequence</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D004247" MajorTopicYN="N">DNA</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D004262" MajorTopicYN="N">DNA Restriction Enzymes</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D006238" MajorTopicYN="N">Haploidy</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D009154" MajorTopicYN="N">Mutation</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D009693" MajorTopicYN="Y">Nucleic Acid Hybridization</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D009841" MajorTopicYN="N">Oligonucleotides</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D011110" MajorTopicYN="N">Polymorphism, Genetic</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D012529" MajorTopicYN="N" Type="Geographic">Saudi Arabia</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D013789" MajorTopicYN="N">Thalassemia</DescriptorName>
<QualifierName UI="Q000097" MajorTopicYN="N">blood</QualifierName>
<QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName>
</MeshHeading>
</MeshHeadingList>
</MedlineCitation>
<PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>1986</Year>
<Month>4</Month>
<Day>1</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="medline"><Year>2001</Year>
<Month>3</Month>
<Day>28</Day>
<Hour>10</Hour>
<Minute>1</Minute>
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<PubMedPubDate PubStatus="entrez"><Year>1986</Year>
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<PublicationStatus>ppublish</PublicationStatus>
<ArticleIdList><ArticleId IdType="pubmed">3006832</ArticleId>
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</record>

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Use of oligonucleotide hybridization in the characterization of a beta zero-thalassemia gene (beta 37 TGG----TGA) in a Saudi Arabian family.

Use of oligonucleotide hybridization in the characterization of a beta zero-thalassemia gene (beta 37 TGG----TGA) in a Saudi Arabian family.

Source :

English descriptors

Abstract

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki