Screening for functional sequence variations and mutations in ABCA1.

Mutations in the ATP-binding cassette 1 transporter gene (ABCA1) are responsible for the genetic HDL-deficiency syndromes, which are characterized by severely diminished plasma HDL-C levels and a predisposition to cardiovascular disease and splenomegaly. The ABCA1 gene contains 50 exons and codes for a 2261-amino acid long membrane protein that facilitates phospholipid and cholesterol transport. Several mutations have been identified so far as responsible either for Tangier disease or for reduced HDL levels.

Isolation of plasma small-dense low-density lipoprotein using a simple air-driven ultracentrifuge and quantification using immunoassay of apolipoprotein B.

Small-dense low-density lipoprotein (SD-LDL) is associated with coronary heart disease risk. Current methods for its quantification are expensive, complex and time-consuming. Plasma was adjusted to a density (D) of 1.

Measurement of plasma small-dense LDL concentration by a simplified ultracentrifugation procedure and immunoassay of apolipoprotein B.

Background: Existing methods for detecting small-dense low-density lipoprotein (SD-LDL) are either semiquantitative (e.g., gradient gel electrophoresis) or require specialised laboratory methods (e.