PstI and RsaI RFLPs in complete linkage disequilibrium at the CYP2E gene.

Source/Description: A 1.5 kb Apal-Apal fragment, containing 5' upstream sequences of the human CYP2E gene (1). Polymorphism: Pstl detects a two allele polymorphism with bands at 6.1 kb (Cl) or 3.9 and 2.2 kb (C2). Rsal detects a two allele polymorphism with bands at 1.4 and 0.5 kb (Cl) or 1.9 kb (C2). These two polymorphisms are in complete linkage disequilibrium with each other. Other Comments: No linkage disequilibrium with TaqI RFLP (2) was observed. We have found no correlation between the Pstl polymorphism and cancers of the stomach and large bowel, tested in 102 and 86 patients, respectively. Source/Description: H2—42 contains a 2.2 kb fragment subcloned into the HindHI site of pBR322. The original HindHI fragment was subcloned from a Charon 21A bacteriophage derived from a chromosome 13 specific library (1). Polymorphism: A three-allele polymorphism is detected with Sspl (AAT/ATT). Al = 1.75 kb; A2 = 1.60 kb; A3 = 1.8 kb. A constant fragment of 1.05 kb is also present. of at least 6 unrelated Caucasians was screened for each enzyme. Mendelian Inheritance: Co-dominant segregation was demonstrated in 24 informative families (293 individuals). Other Comments: The frequency of the A3 allele was estimated from one individual with an A2/A3 genotype.