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Phenotypes of alpha 1 antitrypsin in Karachi, Pakistan.
Shahid, A; Siddiqui, A A; Zuberi, S J; Waqar, M.
Afiliação
  • Shahid A; Pakistan Medical Research Council, Research Centre, Jinnah Postgraduate Medical Centre, Department of Biochemistry, Karachi.
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.
Assuntos
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Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Alfa 1-Antitripsina / Testes Genéticos Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged / Aged80 / Female / Humans / Male / 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
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Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Alfa 1-Antitripsina / Testes Genéticos Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged / Aged80 / Female / Humans / Male / 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