Hypoalphalipoproteinaemia and polymorphisms associated with reduced expression of the apolipoprotein A-I gene and resolution of disputed paternity in a large English family.
A Pst-I RFLP polymorphism adjacent to the 3' end of the apolipoprotein 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.
Matsakis
M
M
Department of Chemical Pathology and Human Metabolism, Royal Free Hospital and School of Medicine (University of London), UK.
Wile
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DB
Humphries
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SE
Winder
A F
AF
D000293:Adolescent; D000328:Adult; D016632:Apolipoprotein A-I / Q000032:analysis* / Q000235:genetics; D002784:Cholesterol / Q000097:blood; D008076:Cholesterol, HDL / Q000097:blood; D005260:Female; D006801:Humans; D008297:Male; D010334:Paternity; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D013631:Tangier Disease / Q000235:genetics*; D014280:Triglycerides / Q000097:blood
D016632:Apolipoprotein A-I; D008076:Cholesterol, HDL; D014280:Triglycerides; D002784:Cholesterol