Alpha thalassaemia: a potential source of error in DNA linkage studies for adult polycystic kidney disease.
- 1 January 1989
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 26 (1) , 6-9
- https://doi.org/10.1136/jmg.26.1.6
Abstract
DNA polymorphisms associated with adult polycystic kidney disease and detected by restriction enzymes PvuII and RsaI were sought in 18 members of a Greek Cypriot family. The adult polycystic kidney disease (APKD) defect was shown to segregate with a specific 3'HVR PvuII DNA polymorphism and enabled exclusion of APKD in two children incorrectly diagnosed by ultrasound. An unusual problem of the DNA linkage approach in detection of APKD is illustrated. This occurred after coinheritance of alpha+ thalassaemia and APKD, which resulted in an altered band size for the (+) RsaI restriction fragment length polymorphism.This publication has 12 references indexed in Scilit:
- A study of genetic linkage heterogeneity in adult polycystic kidney diseaseHuman Genetics, 1987
- Localisation of a mutation producing autosomal dominant polycystic kidney disease without renal failure.Journal of Medical Genetics, 1987
- Adult polycystic kidney disease and linked RFLPs at the alpha globin locus: a genetic study in the South Wales population.Journal of Medical Genetics, 1987
- Recombination at the human α-globin gene cluster: Sequence features and topological constraintsCell, 1987
- PRENATAL DIAGNOSIS OF AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE WITH A DNA PROBEThe Lancet, 1986
- A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16Nature, 1985
- Sodium-activated potassium current in cultured avian neuronesNature, 1985
- Detection of a restriction site polymorphism within the human ?-globin gene complexHuman Genetics, 1985
- Allelic variation and linkage properties of a highly polymorphic restriction fragment in humans.1984
- Independent recombination events between the duplicated human α globin genes; implications for their concerted evolutionNucleic Acids Research, 1984