PT  - JOURNAL ARTICLE
AU  - M H Davies
AU  - E Elias
AU  - S Acharya
AU  - W Cotton
AU  - G C Faulder
AU  - A A Fryer
AU  - R C Strange
TI  - GSTM1 null polymorphism at the glutathione S-transferase M1 locus: phenotype and genotype studies in patients with primary biliary cirrhosis.
AID  - 10.1136/gut.34.4.549
DP  - 1993 Apr 01
TA  - Gut
PG  - 549--553
VI  - 34
IP  - 4
4099  - http://gut.bmj.com/content/34/4/549.short
4100  - http://gut.bmj.com/content/34/4/549.full
SO  - Gut1993 Apr 01; 34
AB  - Studies were carried out to test the hypothesis that the GSTM1 null phenotype at the mu (mu) class glutathione S-transferase 1 locus is associated with an increased predisposition to primary biliary cirrhosis. Starch gel electrophoresis was used to compare the prevalence of GSTM1 null phenotype 0 in patients with end stage primary biliary cirrhosis and a group of controls without evidence of liver disease. The prevalence of GSTM1 null phenotype in the primary biliary cirrhosis and control groups was similar; 39% and 45% respectively. In the primary biliary cirrhosis group all subjects were of the common GSTM1 0, GSTM1 A, GSTM1 B or GSTM1 A, B phenotypes while in the controls, one subject showed an isoform with an anodal mobility compatible with it being a product of the putative GSTM1*3 allele. As the GSTM1 phenotype might be changed by the disease process, the polymerase chain reaction was used to amplify the exon 4-exon 5 region of GSTM1 and show that in 13 control subjects and 11 patients with primary biliary cirrhosis, GSTM1 positive and negative genotypes were associated with corresponding GSTM1 expressing and non-expressing phenotypes respectively. The control subject with GSTM1 3 phenotype showed a positive genotype.