title: A new case of apo C-II deficiency with a nonsense mutation in the apo C-II gene.
abstract: The apo C-II gene from a patient with apo C-II deficiency has been sequenced after amplification by the polymerase chain reaction (PCR). The sequence analysis revealed a substitution of adenosine for cytosine at position 3,002 in exon 3, leading to the introduction of a premature stop codon (TAA) at a position corresponding to aminoacid 37 of mature apo C-II. This mutation creates a new Rsa I restriction enzyme site in the apo C-II gene. Amplification of DNA from family members by PCR and digestion with Rsa I established that the patient is a true homozygote for this mutation. The same nucleotide has been substituted for the mutation apo C-IIPadova and apo C-IIBari previously described in two kindreds from Italy. From these data we speculate that base pair 3,002 in the apo C-II gene may represent a hot spot for mutation.
authors.affiliation: Istituto di Scienze Farmacologiche, Università di Milano, Italy.
authors.forename: T
authors.initials: T
authors.lastname: Zanelli
authors.forename: A L
authors.initials: AL
authors.lastname: Catapano
authors.forename: M R
authors.initials: MR
authors.lastname: Averna
authors.forename: C M
authors.initials: CM
authors.lastname: Barbagallo
authors.forename: A
authors.initials: A
authors.lastname: Liotta
authors.forename: F C
authors.initials: FC
authors.lastname: Giardina
authors.forename: A
authors.initials: A
authors.lastname: Notarbartolo
mesh_terms: D053304:Apolipoprotein C-II; D001056:Apolipoproteins C / Q000172:deficiency* / Q000235:genetics*; D001483:Base Sequence; D002675:Child, Preschool; D002784:Cholesterol / Q000097:blood; D005091:Exons / Q000502:physiology; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics; D007525:Isoelectric Focusing; D008071:Lipoprotein Lipase / Q000097:blood; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D014280:Triglycerides / Q000097:blood
chemical_list: D053304:Apolipoprotein C-II; D001056:Apolipoproteins C; D014280:Triglycerides; D002784:Cholesterol; D008071:Lipoprotein Lipase