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A linkage study of phenylketonuria

Kåre Berg, Letten F. Saugstad

Open publisher page 13 citations

Abstract

A search for linkage between phenylketonuria (PKU) and each of the following marker systems has been conducted: ABO, MN, Rh, Kell, Hp, Gc, PGM1. Previous suggestions of linkage between PKU and ABO could not be confirmed. For the PKU‐PGM1 relationship, lod score values higher than I were found for recombination fractions 0.05 and 0.10, suggesting the possibility of linkage between the two loci. However, more data are needed to settle this question. Low positive lod scores for higher values of the recombination fraction were found for the PKU‐Rh and the PKU‐Hp relationships. Low positive lod score values were also found for the PKU‐Kell relationship.

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What this paper is about

A search for linkage between phenylketonuria (PKU) and each of the following marker systems has been conducted: ABO, MN, Rh, Kell, Hp, Gc, PGM1. Previous suggestions of linkage between PKU and ABO could not be confirmed. For the PKU‐PGM1 relationship, lod score values higher than I were found for recombination fractions 0.05 and 0.10, suggesting the possibility of linkage between the two loci. However, more data are needed to settle this question. Low positive lod scores for higher values of the recombination fraction were found for the PKU‐Rh and the PKU‐Hp relationships. Low positive lod score values were also found for the PKU‐Kell relationship.

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OpenAlex reports 13 citations for this work. Citation counts describe recorded attention and do not establish research quality.

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Available abstract

A search for linkage between phenylketonuria (PKU) and each of the following marker systems has been conducted: ABO, MN, Rh, Kell, Hp, Gc, PGM1. Previous suggestions of linkage between PKU and ABO could not be confirmed. For the PKU‐PGM1 relationship, lod score values higher than I were found for recombination fractions 0.05 and 0.10, suggesting the possibility of linkage between the two loci. However, more data are needed to settle this question. Low positive lod scores for higher values of the recombination fraction were found for the PKU‐Rh and the PKU‐Hp relationships. Low positive lod score values were also found for the PKU‐Kell relationship.

Key concepts: Recombination Fraction, Lod score, Linkage (software), ABO blood group system, Genetic linkage, Genetics, Phenylketonurias, Medicine

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