作者: Ytje Y. van der Hoek , Marianne E. Wittekoek , Ulrike Beisiegel , John J.P. Kastelein , MarlysL. Koschinsky
DOI: 10.1093/HMG/2.4.361
关键词: Gene isoform 、 Complementary DNA 、 Gene 、 Polymorphism (computer science) 、 Biology 、 Apolipoprotein B 、 Genetics 、 Molecular biology 、 Population 、 Repeated sequence 、 Peptide sequence
摘要: Elevated levels of plasma lipoprotein(a) [Lp(a)] have been correlated with the development atherosclerosis in human populations. Apolipoprotein(a) [apo(a); distinguishing protein component Lp(a)] is characterized by multiple repeats a sequence that closely resembles kringle IV plasminogen. Variably-sized Lp(a) isoforms are observed population shown to occur as result differences numbers repeated units apo(a). Using PCR analysis liver mRNA, we analyzed apo(a) from 10 unrelated individuals order determine presence or absence repeat #1, and #30-#37. Based on cDNA published for one individual, these kringles all differ some degree amino acid major repeat, which present number identically copies. We found sequences corresponding #30-#37 were studied. This suggests inverse relationship has between isoform size mediated different identical repeats, an yet undetermined mechanism. During course this study, identified Met-->Thr polymorphism #37. The calculated frequencies Met Thr alleles 0.58 0.42 respectively. did not observe correlation substitution either levels, transcript size.