Title

Low Serum Alpha 1 Antitrypsin in Duodenal Ulcer - A Family Study

Document Type

Article

Department

Biological and Biomedical Sciences

Comments

Genetic association of a disease is often recognized due to its occurrence in families. Duodenal ulcer like many common diseases has a variable age of onset, expression and familial aggregation 1. Three lines of evidence support a genetic role: family studies, twin studies and blood group studies. Family aggregation is commonly associated with early onset (<30 years) and blood group 0 with late onset of symptoms2. The disease has a genetic component that predisposes and an environmental factor that helps in its manifestation1. Alpha-l antitrypsin (alpha I AT) deficiency is an inherited metabolic disorder associated with not only a severe reduction of alpha- AT in blood but also aminoacid substitution of alpha- I AT due to gene variations3. Subjects With alpha I AT, deficiency4 particularly its Z allele are moc prone to develop duodena ulcers5. This association may be a contributory factor towards the aggravation of the disease and this perception becomes even stronger when other risk factors for duodenal ulcer like helicobacter pylon are absent among the family members. Z mutation is the most common genetic defect in alpha AT deficiency and its screening is commonly done by Isoelectric focusing (IEF). However, for accurate identification genetic screening has been recommended which includes detection of inherited traits by measurements of enz\\me activities in blood, the presence of a specific gene or a specific mutation4. We, therefore have applied both the methods and have found that polymerase chain reaction (PCR) based method is an effective way to confirm the phenotypes6.

Publication

J Pak Med Assoc.