Linkage disequilibrium between mutation and RFLP haplotype at the phenylalanine hydroxylase locus in the German population |
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Authors: | Uta Lichter-Konecki Magdalena Schlotter David S. Konecki Sigfried Labeit Savio L. C. Woo Friedrich K. Trefz |
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Affiliation: | (1) Universitäts-Kinderklinik, Im Neuenheimer Feld 150, D-6900 Heidelberg 1, Federal Republic of Germany;(2) Howard Hughes Medical Institute, Department of Cell Biology and Institute of Molecular Genetics, Baylor College of Medicine, 77030 Houston, TX, USA |
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Abstract: | Summary Restriction fragment length polymorphism (RFLP) haplotypes at the phenylalanine hydroxylase (PAH) locus have been determined in 60 German families with PAH deficiency. Similar to the Danish population, about 90% of the mutant alleles are confined to four distinct haplotypes. There are however, differences in the frequency distributiion of these haplotypes among the mutant alleles between the two populations. Using an oligonucleotide probe for the splicing mutation associated with mutant haplotype 3 in the Danish population, a tight association between the mutation and the RFLP haplotype has also been observed in Germany. The results provide strong evidence that the splicing mutation occurred on a haplotype 3 chromosome and that the mutant allele has spread into different populations smong Caucasians. |
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