Lise Lotte Hansen

Polymorphisms in the human X-linked pyruvate dehydrogenase E1 alpha gene

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Pyruvate dehydrogenase E1 alpha deficiency is an X-chromosome-linked disorder, often with fatal consequences. We have searched for genetically useful polymorphisms in or near this gene. No restriction fragment length polymorphisms were detected using a battery of 36 different restriction enzymes and probing with a full-length cDNA fragment, or two single-copy genomic fragments located within intron 8, and 15 kb 3' of the coding region, respectively. The chemical cleavage method was then applied to the detection of base changes in or near the gene. One polymorphism was found in exon 8 of the coding region. However, no base changes were detected in intron 3 or in the part of intron 8 covered by fragment gB2. Three blocks of microsatellite DNA containing variable numbers of CA-repeats were isolated from the 5' end of the gene and characterized. Length polymorphisms in these microsatellite DNAs were analysed using the polymerase chain reaction. Although the three loci are tightly linked, the polymorphisms appear not to be in disequilibrium, making them useful markers in linkage studies of the pyruvate dehydrogenase E1 alpha gene. Of 31 females analysed 12(39%) were heterozygous for at least one length polymorphism of the three (CA)n alleles.
Original languageEnglish
JournalHuman Genetics
Pages (from-to)49-53
Number of pages5
Publication statusPublished - 1991

    Research areas

  • Autoradiography, Base Sequence, DNA, Satellite, Genetic Linkage, Humans, Molecular Sequence Data, Polymerase Chain Reaction, Polymorphism, Genetic, Polymorphism, Restriction Fragment Length, Pyruvate Dehydrogenase Complex, Pyruvate Dehydrogenase Complex Deficiency Disease, Repetitive Sequences, Nucleic Acid, X Chromosome

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