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The inheritance of intraerythrocytic sodium level

1988; Wiley; Volume: 29; Issue: 1 Linguagem: Inglês

10.1002/ajmg.1320290125

1096-8628

Sandra J. Hasstedt, Steven C. Hunt, Lily Wu, Roger R. Williams, John M. Optiz, James F. Reynolds,

Hormonal Regulation and Hypertension

Abstract Intraerythrocytic sodium level (RBC Na) was measured on 1,800 normotensive members of 64 Utah pedigrees ascertained through hypertensive or normotensive probands sibs with early stroke death, or brothers with early coronary disease. Likelihood anaysis provided evidence that RBC Na was determind by four alleles at a single locus. Each allele was reccessive to all alleles associated with a lower mean level. The four resultant distributions occurred in the frequencies; 0.8%, 89.3%, 9.7%, and 0.2% with correspondingg means (mmol/1 RBC) of 4.32, 6.67, 9.06 and 12.19, respectively. The major locus explained 29.0% of the variance in RBC Na; Polygenic inheritance explained another 54.6%. A higher frequency of the genotypes for high RBC Na in pedigrees when the proband was hypertensive than normotesive provided evidence that this major locus increases susceptibility to hypertention.