Phenylketonuria as a balanced polymorphism: the nature of the heterozygote advantage.
Ann Hum Genet
; 38(4): 461-9, 1975 May.
Article
in En
| MEDLINE
| ID: mdl-1190737
ABSTRACT
Mothers of children with phenylketonuria have a significantly lower miscarriage rate than a matched control population in Ireland and west Scotland. This protective effect of the gene against some factor causing foetal death would seem to constitute a heterozygote advantage which might account for the previously observed polymorphism for phenylketonuria. It is suggested that the decrease in foetal mortality is mediated by the higher concentration of phenylalanine in the heterozygous mother's blood, but that this is not a simple nutritional effect of an increased supply of an essential amino acid leading to increased protein deposition.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Phenylketonurias
/
Polymorphism, Genetic
Limits:
Female
/
Humans
/
Pregnancy
Country/Region as subject:
Europa
Language:
En
Journal:
Ann Hum Genet
Year:
1975
Document type:
Article