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Restriction site polymorphism at the LPA (Lp(a) apoliprotein; apoliprotein(a)) locus
Author(s) -
Berg Kåre,
Kondo Ikuko,
Drayna Dennis,
Lawn Richard
Publication year - 1990
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1990.tb03533.x
Subject(s) - genetics , restriction site , biology , genotype , restriction fragment length polymorphism , locus (genetics) , mendelian inheritance , gene , restriction enzyme , restriction fragment , microbiology and biotechnology
A restriction site polymorphism in the Lp(a) apoliprotein gene (the LPA gene) is reported. The basis for the polymorphism is presence or absence of an MspI restriction site that appears to be 3‘ to the last kringle IV structure of the gene. The “1” gene (presence of the restriction site) has a frequency of 0.316 and the “2” gene (absence of the restriction site) has a frequency of 0.684. Both members of each of 67 monozygotic (MZ) twin pairs had the same genotype and there was Mendelian segregation of the DNA variants in 40 families with a total of 75 children. There was a lower proportion of people with genotype 1–1 in the top quartile than in the 3 bottom quartiles of the population distribution of Lp(a) lipoprotein levels but the difference did not reach statistical significance.