Open AccessEcoN I polymorphism in the human cholesteryl ester transfer protein (CEPT) gene
Author(s) -
Giovanni Zuliani,
Helen H. Hobbs
Publication year - 1990
Publication title -
nucleic acids research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 9.008
H-Index - 537
eISSN - 1362-4954
pISSN - 0305-1048
DOI - 10.1093/nar/18.9.2834-a
Subject(s) - boulevard , biology , cholesterylester transfer protein , library science , polymorphism (computer science) , gene , genetics , history , genotype , endocrinology , archaeology , lipoprotein , cholesterol , computer science
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.