Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Rapid and simple diagnosis of the two common alpha 1-proteinase inhibitor deficiency alleles PiZ and PiS by DNA analysis.

European journal of clinical chemistry and clinical biochemistry : journal of the Forum of European Clinical Chemistry Societies - 1 Sept 1996

Braun A, Meyer P, Cleve H, Roscher A A

Abstract excerpt

We describe a simple DNA-based method to assign the two common alpha 1-proteinase inhibitor (alpha 1-antitrypsin) deficiency alleles in the Pi-system (Pi*Z and Pi*S). Two sets of mutated primers are used in the polymerase chain reaction (PCR), followed by a restriction enzyme digest of the products. The mutated forward primers create a Taq I site only if the wildtype alleles (mostly M or subtypes) are present and...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alleles
Share to alpha 1-Antitrypsin

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Base Sequence

Share to DNA Mutational Analysis

Share to Electrophoresis, Agar Gel

Share to Molecular Sequence Data

Share to Phenotype

Share to Polymerase Chain Reaction

Source

Identifiers

PMID: 8891530
DOI: 10.1515/cclm.1996.34.9.761

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Rapid and simple diagnosis of the two common alpha 1-proteinase inhibitor deficiency alleles Pi*Z and Pi*S by DNA analysis.PMID 8891530Read ↗

Prevalence of α1-antitrypsin deficiency alleles PI*S and PI*Z worldwide and effective screening for each of the five phenotypic classes PI*MS, PI*MZ, PI*SS, PI*SZ, and PI*ZZ: a comprehensive review.Semantic proximity Read ↗

The prevalence of alpha(1)-antitrypsin deficiency in a representative population sample from Poland.Semantic proximity Read ↗

DNA restriction fragments associated with alpha 1-antitrypsin indicate a single origin for deficiency allele PI Z.Semantic proximity Read ↗

Rapid and inexpensive detection of alpha1-antitrypsin deficiency-related alleles S and Z by a real-time polymerase chain reaction suitable for a large-scale population-based screening.Semantic proximity Read ↗

PI S and PI Z alpha-1 antitrypsin deficiency worldwide. A review of existing genetic epidemiological data.Semantic proximity Read ↗

Rapid genotyping of alpha 1 antitrypsin deletion mutation (PI*Mmalton) using bi-directional PCR allele-specific amplification.Semantic proximity Read ↗

Genetic epidemiology of alpha-1 antitrypsin deficiency in North America and Australia/New Zealand: Australia, Canada, New Zealand and the United States of America.Semantic proximity Read ↗

Clinical considerations in individuals with α1-antitrypsin PI*SZ genotype.Semantic proximity Read ↗

Alpha-1 antitrypsin deficiency in Italy: regional differences of the PIS and PIZ deficiency alleles.Semantic proximity Read ↗

Molecular analysis of the Pi*Z allele in patients with liver disease.Semantic proximity Read ↗

Molecular characterization of a new alpha-1-antitrypsin M variant allele, Mwhitstable: implications for DNA-based diagnosis.Semantic proximity Read ↗

Frequency of alleles and genotypes associated with alpha-1 antitrypsin deficiency in clinical and general populations: Revelations about underdiagnosis.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.