Phenotypes of alpha 1 antitrypsin in Karachi, Pakistan.
OBJECTIVE
To determine serum level of the protease inhibitor, to identify phenotypes and determine their frequencies.


METHODS
A prospective study.


METHODS
PMRC, Research Centre, JPMC and the Aga Khan University Hospital, Karachi.


METHODS
Healthy adults without history of peptic ulcer disease and a normal endoscopy.


METHODS
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.


CONCLUSIONS
Frequency of phenotype associated with total and intermediate deficiency is less in the population.
Shahid
A
A
Pakistan Medical Research Council, Research Centre, Jinnah Postgraduate Medical Centre, Department of Biochemistry, Karachi.
Siddiqui
A A
AA
Zuberi
S J
SJ
Waqar
M
M
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D005260:Female; D005787:Gene Frequency; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D008297:Male; D008875:Middle Aged; D010154:Pakistan; D010641:Phenotype; D016133:Polymerase Chain Reaction; D011446:Prospective Studies; D000515:alpha 1-Antitrypsin / Q000032:analysis* / Q000235:genetics*
D000515:alpha 1-Antitrypsin