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

Human genetics ·Vol. 43 ·No. 2 ·1978-08-31 ·Pages 205-10

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.

MeSH Terms

Amylases/genetics Electrophoresis, Agar Gel Female Genes Genetic Carrier Screening Genetic Linkage Humans Male Pedigree Phenylketonurias/genetics Polymorphism, Genetic alpha-Amylases/genetics

Chemicals

Amylases alpha-Amylases

Authors & Affiliations

7 authors, click to expand affiliations / ORCID

Kamarýt J

Mrskos A

Podhradská O

Kolcová V

Cabalska B

Duczyńska N

Borzymowska J

References (9)

9 references, click to expand

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Article Info

Journal

Human genetics

Abbr.

Hum Genet

ISSN

0340-6717

DOI

10.1007/BF00293596

Published

1978-08-31

Pages

205-10

Language

English

Region

Germany

NLM ID

7613873

Subset

External Links

PubMed source DOI: 10.1007/BF00293596 View journal details

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

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