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DNA sequence polymorphisms in exonic and intronic regions of the human phenylalanine hydroxylase gene aid in the identification of alleles

✍ Scribed by Uta Lichter-Konecki; Magdalena Schlotter; David S. Konecki

Publisher
Springer
Year
1994
Tongue
English
Weight
373 KB
Volume
94
Category
Article
ISSN
0340-6717

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✦ Synopsis

Five sequence polymorphisms at the phenylalanine hydroxylase (PAH) gene locus were observed to be in tight association with specific alleles of this locus. Since these polymorphisms can be detected using polymerase chain reaction (PCR) methodology, application of a combination of these polymorphisms reduces the effort involved in PAH DNA haplotype analysis, which is needed for population genetic analysis or diagnosis of the disease status. In addition our results indicate the evolution of haplotype 3, 4 and 7 PAH alleles from a common ancestor, whereas PAH haplotypes 5, 6, and 11 arose from another common ancestor allele. These data reveal that two of the polymorphisms investigated originated before the separation of races.

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