Hum Genet. 1978 Aug 31;43(2):205-10.

PKU locus: genetic linkage with human amylase (Amy) loci and assignment to linkage group I.

Kamarýt J, Mrskos A, Podhradská O, Kolcová V, Cabalska B, Duczyńska N, Borzymowska J.

Abstract

The linked alpha-amylase loci Amy 1 and Amy 2 were evaluated for their linkage relationship to the PKU locus using data collected from two (one Czech and one Polish) groups of families. The five sibships informative for Amy 1:PKU give a z score of 1.505 at theta = 0.00 and the eight sibships informative for Amy 2:PKU give a z score of 2.709 at theta = 0.00. Due to the tandem position of Amy 1 and Amy 2 loci, these data could be combined, and linkage between Amy and PKU loci established with a z score 4,214 at theta = 0.00. The practical significance of the linkage, especially for identifying PKU allele carriers, is emphasized.

PMID:: 308492; [PubMed - indexed for MEDLINE]

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