FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2065644953> ?p ?o ?g. }

• W2065644953 endingPage "334" @default.
• W2065644953 startingPage "329" @default.
• W2065644953 abstract "Homozygous inheritance of the Z mutation (exon V, Glu342GAG→Lys342AAG), the most common cause of alpha-1-antitrypsin (α1AT) deficiency, is associated with a high risk for emphysema and liver disease. This study presents a rapid and accurate approach to definitive genotypic diagnosis of the Z homozygous state using a combination of polymerase chain reaction amplification of exon V of the α1AT gene and ribonuclease cleavage of an exon V-specific antisense RNA probe. Taking advantage of the concept that ribonuclease A will cleave at points of mismatch of RNA-DNA hybrids, a 0.79 kb antisense RNA probe was designed with complementarity to the sense strand of exon V of the α1AT gene (the site of the Z mutation) along with small regions of the 5′ and 3′ flanking sequences. After amplification of exon V of the α1AT gene from genomic DNA by the polymerase chain reaction, the amplified DNA was analyzed by hybridization to a 32P-labeled exon V antisense RNA probe followed by digestion with RNase A. Any substitution mutations resulting in DNA-RNA mismatch were detected by evaluation with polyacrylamide gel electrophoresis under denaturing conditions followed by autoradiography (expected fragment lengths: 0.33 kb when the exon V probe hybridized to the normal amplified genomic DNA, 0.25 and 0.08 kb fragments when the exon V probe hybridized to the amplified genomic DNA with the Z mutation). Double-blinded evaluation of genomic DNA of 36 individuals (phenotypes MM n = 14, MZ n = 5, ZZ n = 16, ZNull n = 1; included among the “M” alleles were representatives of all the major normal M alleles) demonstrated definitive diagnosis of the Z mutation with absolute specificity for all 36 specimens, i.e., ZZ homozygotes, MZ heterozygotes, and normals were all detected accurately. This approach should be useful not only for screening for the Z mutation of the α1AT gene, but by this type of analysis, mutational alterations of the α1AT gene can be screened for without prior knowledge of the sequence changes and without complex cloning and sequencing methods." @default.
• W2065644953 created "2016-06-24" @default.
• W2065644953 creator A5022987623 @default.
• W2065644953 creator A5026818455 @default.
• W2065644953 creator A5064433832 @default.
• W2065644953 creator A5077310835 @default.
• W2065644953 creator A5081511578 @default.
• W2065644953 date "1989-10-01" @default.
• W2065644953 modified "2023-09-25" @default.
• W2065644953 title "Ribonuclease A Cleavage Combined with the Polymerase Chain Reaction for Detection of the Z Mutation of the Alpha-1-antitrypsin Gene" @default.
• W2065644953 cites W1646314937 @default.
• W2065644953 cites W1969647796 @default.
• W2065644953 cites W1971165489 @default.
• W2065644953 cites W1981190399 @default.
• W2065644953 cites W1982131103 @default.
• W2065644953 cites W1986268544 @default.
• W2065644953 cites W1991247728 @default.
• W2065644953 cites W1999006276 @default.
• W2065644953 cites W2018349527 @default.
• W2065644953 cites W2024649941 @default.
• W2065644953 cites W2025560515 @default.
• W2065644953 cites W2028622989 @default.
• W2065644953 cites W2030515467 @default.
• W2065644953 cites W2032118018 @default.
• W2065644953 cites W2037729914 @default.
• W2065644953 cites W2041164809 @default.
• W2065644953 cites W2050717506 @default.
• W2065644953 cites W2053501297 @default.
• W2065644953 cites W2057099776 @default.
• W2065644953 cites W2060594963 @default.
• W2065644953 cites W2060917321 @default.
• W2065644953 cites W2078119356 @default.
• W2065644953 cites W2079330967 @default.
• W2065644953 cites W2079777619 @default.
• W2065644953 cites W2087816015 @default.
• W2065644953 cites W2107111755 @default.
• W2065644953 cites W2130973883 @default.
• W2065644953 cites W2164269528 @default.
• W2065644953 cites W2319883592 @default.
• W2065644953 cites W2325223078 @default.
• W2065644953 cites W2886778012 @default.
• W2065644953 cites W2887570837 @default.
• W2065644953 cites W52421077 @default.
• W2065644953 doi "https://doi.org/10.1165/ajrcmb/1.4.329" @default.
• W2065644953 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/2624766" @default.
• W2065644953 hasPublicationYear "1989" @default.
• W2065644953 type Work @default.
• W2065644953 sameAs 2065644953 @default.
• W2065644953 citedByCount "7" @default.
• W2065644953 crossrefType "journal-article" @default.
• W2065644953 hasAuthorship W2065644953A5022987623 @default.
• W2065644953 hasAuthorship W2065644953A5026818455 @default.
• W2065644953 hasAuthorship W2065644953A5064433832 @default.
• W2065644953 hasAuthorship W2065644953A5077310835 @default.
• W2065644953 hasAuthorship W2065644953A5081511578 @default.
• W2065644953 hasConcept C104317684 @default.
• W2065644953 hasConcept C10879258 @default.
• W2065644953 hasConcept C153911025 @default.
• W2065644953 hasConcept C17757408 @default.
• W2065644953 hasConcept C2778976237 @default.
• W2065644953 hasConcept C36823959 @default.
• W2065644953 hasConcept C49105822 @default.
• W2065644953 hasConcept C54355233 @default.
• W2065644953 hasConcept C552990157 @default.
• W2065644953 hasConcept C67705224 @default.
• W2065644953 hasConcept C69766542 @default.
• W2065644953 hasConcept C86803240 @default.
• W2065644953 hasConceptScore W2065644953C104317684 @default.
• W2065644953 hasConceptScore W2065644953C10879258 @default.
• W2065644953 hasConceptScore W2065644953C153911025 @default.
• W2065644953 hasConceptScore W2065644953C17757408 @default.
• W2065644953 hasConceptScore W2065644953C2778976237 @default.
• W2065644953 hasConceptScore W2065644953C36823959 @default.
• W2065644953 hasConceptScore W2065644953C49105822 @default.
• W2065644953 hasConceptScore W2065644953C54355233 @default.
• W2065644953 hasConceptScore W2065644953C552990157 @default.
• W2065644953 hasConceptScore W2065644953C67705224 @default.
• W2065644953 hasConceptScore W2065644953C69766542 @default.
• W2065644953 hasConceptScore W2065644953C86803240 @default.
• W2065644953 hasIssue "4" @default.
• W2065644953 hasLocation W20656449531 @default.
• W2065644953 hasLocation W20656449532 @default.
• W2065644953 hasOpenAccess W2065644953 @default.
• W2065644953 hasPrimaryLocation W20656449531 @default.
• W2065644953 hasRelatedWork W1626305077 @default.
• W2065644953 hasRelatedWork W1966103612 @default.
• W2065644953 hasRelatedWork W1967274931 @default.
• W2065644953 hasRelatedWork W1984128476 @default.
• W2065644953 hasRelatedWork W2003479409 @default.
• W2065644953 hasRelatedWork W2065644953 @default.
• W2065644953 hasRelatedWork W2085300355 @default.
• W2065644953 hasRelatedWork W2143540931 @default.
• W2065644953 hasRelatedWork W2801209660 @default.
• W2065644953 hasRelatedWork W2807118377 @default.
• W2065644953 hasVolume "1" @default.
• W2065644953 isParatext "false" @default.
• W2065644953 isRetracted "false" @default.
• W2065644953 magId "2065644953" @default.

• next