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Hypoalphalipoproteinaemia and polymorphisms associated with reduced expression of the apolipoprotein A‐I gene and resolution of disputed paternity in a large English family
Author(s) -
Matsakis M.,
Wile D. B.,
Humphries S. E.,
Winder A. F.
Publication year - 1993
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.1399-0004.1993.tb04424.x
Subject(s) - genetics , apolipoprotein b , biology , gene , endocrinology , cholesterol
A Pst‐I RFLP polymorphism adjacent to the 3′ end of the apoliprotein A‐I gene is reported to associate with hypoalphalipoproteinaemia with dominant inheritance in families identified through accelerated coronary heart disease. This association was not apparent in a large English family identified through voluntary health screening, and with no evident premature coronary disease. Any association could, however, be masked by sex, or by further undetermined variation affecting Pst‐I restriction sites. Analysis of this and other polymorphisms present also led to resolution both of disputed paternity and of a long‐standing family feud.