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Advisor(s)
Abstract(s)
Lipoprotein (a) [Lp(a)] is a complex of apolipoprotein
(a) [apo(a)] and low density lipoprotein, which is an
independent major risk factor associated with
atherothrombotic disease 1. Unlike other lipoproteins,
interindividual differences in Lp(a) plasma concentration
is almost entirely due to inheritance, most of them being
attributed to sequence differences linked to the apo(a)
locus.2,3,4 The primary structure of apo(a) encompasses a
protease domain, a kringle V domain and a variable
number of kringle IV repeats, which is homologous to
the same domain in the plasminogen molecule and is
thought to be responsible for the antifibrinolytic activity
of Lp(a). The gene contains a pentanucleotide repeat
(TTTTA)n polymorphism, 1.4 Kb upstream from the
apo(a) gene reading frame. Eight different alleles have
been detected to date, with the number of TTTTA
repeats ranging from 5 to 12.5 This polymorphism, first
described by Wade et al in 1993,6 has been suggested to
be important in the control of apo(a) gene expression.
Alleles containing more repeats were generally associated
with lower plasma Lp(a) concentration.
Description
Keywords
Lipoprotein Polymorphis
Citation
Ferreira, Helena; Costa, Elísio; Vieira, Emília; Leão, Anabela; Magalhães, Rui; Gomes, Lourenço; Barbot, José; Santos, Rosário (2003) Pentanucleotide repeat (TTTTA)n polymorphism in the 5' control region of the apoliprotein (A) gene and atherothrombotic serum lipoprotein (A) concentration, in a pediatric population. Haematologica. ISSN 0390-6078. 88:3, p. 38-39
Publisher
European Hematology Association