Phenotypes of alpha 1 antitrypsin in Karachi, Pakistan.
J Pak Med Assoc
; 50(11): 374-6, 2000 Nov.
Article
em En
| MEDLINE
| ID: mdl-11126813
OBJECTIVE: To determine serum level of the protease inhibitor, to identify phenotypes and determine their frequencies. STUDY DESIGN: A prospective study. SETTING: PMRC, Research Centre, JPMC and the Aga Khan University Hospital, Karachi. SUBJECTS: Healthy adults without history of peptic ulcer disease and a normal endoscopy. METHODOLOGY: Quantitative measurement of serum alpha 1 AT was carried out by radial immunodiffusion, phenotyping by iso-electric focusing and confirmation of phenotypes by immuno-fixation and DNA analysis technique. RESULTS: Serum alpha 1 AT was low in 13.4% of the subjects. MM phenotype predominated followed by SZ, SS,MZ and ZZ. DNA diagnosis accurately resolved the phenotypes as S and Z. CONCLUSION: Frequency of phenotype associated with total and intermediate deficiency is less in the population.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Fenótipo
/
Alfa 1-Antitripsina
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Testes Genéticos
Tipo de estudo:
Observational_studies
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Prognostic_studies
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Risk_factors_studies
Limite:
Adolescent
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Adult
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Aged
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Aged80
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Female
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Humans
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Male
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Middle aged
País/Região como assunto:
Asia
Idioma:
En
Revista:
J Pak Med Assoc
Ano de publicação:
2000
Tipo de documento:
Article
País de publicação:
Paquistão