Alan S. Lidsky

TL;DR: Fe feasibility studies of prenatal diagnosis of classical phenylketonuria and identification of carriers of the trait indicate that these services could be provided for up to 75% of all families with phenyl ketonuric children in the general Caucasian population.

TL;DR: Direct hybridization analysis using specific oligonucleotide probes demonstrates that the splicing mutation is the most prevalent phenylketonuria allele among Caucasians, and the results suggest the possibility of detecting carriers of the genetic trait who have no family history of phenyl ketonuria.

TL;DR: Most families with a history of classical phenylketonuria can take advantage of the genetic analysis for prenatal diagnosis and carrier detection of the hereditary disorder.

TL;DR: A crude relationship between standardized linkage disequilibria and physical map distances of the polymorphic sites indicates that there is no apparent recombination hot-spot in the human phenylalanine hydroxylase gene, since the recombination rate within the locus apears to be uniform and likely to be occurring at a rate similar to that within the HLA gene cluster.

TL;DR: These experiments demonstrated that the region on chromosome 12 containing the PAH gene and the PKU locus in man is 12q22----12q24.1, which provides a regionalized map position for a major human disease locus and can serve as a reference point for linkage analysis with other DNA markers on human chromosome 12.