EcoN I polymorphism in the human cholesteryl ester transfer protein (CEPT) gene.

EcoRI polymorphism within the GLI gene (chromosome 12q13.3-14.1) Source/Description: pKK36Pl contains a 1.55 kb PstI genomic fragment of GLJ cloned into the PstI site of pGEM-3 (1). Polymorphism: EcoRI identifies a two allele polymorphism (Al: 18 kb; A2: 5 kb). Frequency: Estimated from 91 individuals. Al 18 kb (0.72) A2 5kb (0 28) Chromosomal Localisation: Assigned to chromosome 12ql3.3-14.1 using a somatic cell hybrid panel and in situ hybridization (1, 2). Source and Description of Clone: cDNA clone containing the coding sequence from amino acid number 9 of mature CETP protein spanning the complete coding sequence to the 3' untranslated region (1, 2). Polymorphisms: EcoN I digestion identifies a two allele polymorphism with bands of 9.0 kb and 8.0 kb. In addition, constant bands of 6.0 kb and smaller are noted. Frequency: Estimated in 8 unrelated Caucasians. 9.0 kb allele: 0.56 8.0 kb allele: 0 44 The heterozygosity index was 49%. Chromosomal Localization: The CETP gene has been assigned to chromosome 16 ql2 —16 q21 (3). Mendelian Inheritance: Codominant segregation of the alleles was documented in one informative family with nine meioses (data not shown). Acknowledgement: We thank Tommy F.Hyatt for providing excellent technical assistance.