A single polymorphic STR system in the human phenylalanine hydroxylase gene permits rapid prenatal diagnosis and carrier screening for phenylketonuria
| Autor: | E. R. Naughton, R. C. Eisensmith, Li Jin, Alexei A. Goltsov, Savio L. C. Woo, Ranajit Chakraborty |
|---|---|
| Rok vydání: | 1993 |
| Předmět: |
congenital
hereditary and neonatal diseases and abnormalities Linkage disequilibrium Phenylalanine hydroxylase Phenylketonurias Molecular Sequence Data Genetic Carrier Screening Biology Linkage Disequilibrium Pregnancy Prenatal Diagnosis Genetics Humans Allele Molecular Biology Alleles Genetics (clinical) Repetitive Sequences Nucleic Acid Polymorphism Genetic Base Sequence Haplotype Phenylalanine Hydroxylase DNA General Medicine Molecular biology Oligodeoxyribonucleotides Genetic marker biology.protein Female Restriction fragment length polymorphism Polymorphism Restriction Fragment Length |
| Zdroj: | Human Molecular Genetics. 2:577-581 |
| ISSN: | 1460-2083 0964-6906 |
| DOI: | 10.1093/hmg/2.5.577 |
| Popis: | Phenylketonuria (PKU) is an autosomal recessive genetic disorder caused by phenylalanine hydroxylase (PAH) deficiency. Individuals afflicted with PKU develop irreversible mental retardation that can be largely prevented by the administration of a low-phenylalanine diet. A number of restriction fragment-length polymorphisms (RFLPs) have been identified in the PAH gene. Combinations of RFLPs constitute unique haplotypes that can be used to identify mutant PAH chromosomes for prenatal diagnostic purpose in PKU families. Unfortunately, the utility of haplotype analysis is limited in populations with a single predominant haplotype. We have identified a novel short tandem repeat (STR) within the PAH gene that has an average level of heterozygosity of about 75% in Orientals and about 80% in European Caucasian populations. This single marker is as informative as haplotype analysis in Europeans and nearly twice as informative as haplotype analysis in Orientals. Although there is statistically significant disequilibrium between STR alleles and RFLP-based haplotypes, there is a relatively low degree of disequilibrium between STR alleles and certain RFLP sites. Nevertheless, the combined use of the STR and RFLP haplotype systems increases the informativity of linkage-based tests for prenatal diagnosis and carrier screening in PKU families. |
| Databáze: | OpenAIRE |
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