EXTENSIVE RESTRICTION SITE POLYMORPHISM AT THE HUMAN PHENYLALANINE-HYDROXYLASE LOCUS AND APPLICATION IN PRENATAL-DIAGNOSIS OF PHENYLKETONURIA
- 1 January 1985
- journal article
- research article
- Vol. 37 (4) , 619-634
Abstract
A total of 10 restriction site polymorphisms were identified at the human phenylalanine hydroxylase locus using a full-length human phenylalanine hydroxylase c[complementary]DNA clone as a hybridization probe to analyze human genomic DNA. These polymorphic patterns segregate in a Mendelian fashion and concordantly with the disease state in various PKU [phenylketonuria] kindreds. The frequencies of the restriction site polymorphisms at the human phenylalanine hydroxylase locus among Caucasians are such that the observed heterozygosity in the population is 87.5%. Most families with a history of classical PKU can take advantage of the genetic analysis for prenatal diagnosis and carrier detection of the hereditary disorder.This publication has 22 references indexed in Scilit:
- Detection of specific sequences among DNA fragments separated by gel electrophoresisPublished by Elsevier ,2006
- PRENATAL DIAGNOSIS OF CLASSIC PHENYLKETONURIA BY DNA ANALYSISThe Lancet, 1985
- Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylaseBiochemistry, 1985
- Quantification of the close association between DNA haplotypes and specific β-thalassaemia mutations in MediterraneansNature, 1984
- Restriction sites containing CpG show a higher frequency of polymorphism in human DNACell, 1984
- Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuriaNature, 1983
- Linkage of β-thalassaemia mutations and β-globin gene polymorphisms with DNA polymorphisms in human β-globin gene clusterNature, 1982
- DNA sequence variants in the Gγ-, Aγ-, δ- and β-globin genes of manCell, 1979
- Effect of stopping low-phenylalanine diet on intellectual progress of children with phenylketonuria.BMJ, 1978
- STUDIES ON PHENYLKETONURIA. I. RESTRICTED PHENYLALANINE INTAKE IN PHENYLKETONURIA 1Journal of Clinical Investigation, 1955