title: C to T and/or G to A transitions are responsible for loss of a MspI restriction site at the 5'-end of the human apolipoprotein AI gene.
abstract: We detected the loss of a MspI restriction site by a C to T transition at +83 bp and a G to A transition at +84 bp of the 5'-end non-coding region of the human apolipoprotein AI gene. This base change occurred at the "hot spot" (CCGG) for methylation, which may be important in the regulation of gene expression. The population frequency for the loss of the MspI site is 6.1%.
authors.affiliation: Department of Cardiovascular Medicine, Prince Henry Hospital, Little Bay, NSW, Australia.
authors.forename: X L
authors.initials: XL
authors.lastname: Wang
authors.forename: R
authors.initials: R
authors.lastname: Badenhop
authors.forename: K E
authors.initials: KE
authors.lastname: Humphrey
authors.forename: D E
authors.initials: DE
authors.lastname: Wilcken
mesh_terms: D000483:Alleles; D016632:Apolipoprotein A-I / Q000235:genetics*; D001483:Base Sequence; D002874:Chromosome Mapping; D003327:Coronary Disease / Q000235:genetics; D004247:DNA / Q000032:analysis; D017931:DNA Primers / Q000737:chemistry; D019003:Deoxyribonuclease HpaII; D015252:Deoxyribonucleases, Type II Site-Specific; D005786:Gene Expression Regulation; D005787:Gene Frequency; D006801:Humans; D008969:Molecular Sequence Data; D009696:Nucleic Acids / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics; D012307:Risk Factors
chemical_list: D016632:Apolipoprotein A-I; D017931:DNA Primers; D009696:Nucleic Acids; D004247:DNA; D019003:Deoxyribonuclease HpaII; D015252:Deoxyribonucleases, Type II Site-Specific