Genomics (San Diego, Calif.), 1995-11, Vol.30 (2), p.366-368
1995
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Details
- Autor(en) / Beteiligte
- Titel
- The Gene for the Peroxisomal Targeting Signal Import Receptor (PXR1) Is Located on Human Chromosome 12p13, Flanked by TPI1 and D12S1089
- Ist Teil von
- Genomics (San Diego, Calif.), 1995-11, Vol.30 (2), p.366-368
- Ort / Verlag
- San Diego, CA: Elsevier Inc
- Erscheinungsjahr
- 1995
- Quelle
- Elsevier Journal Backfiles on ScienceDirect (DFG Nationallizenzen)
- Beschreibungen/Notizen
- Mutations in the PXR1 gene can cause a generalized peroxisome biogenesis disorder (complementation group 2). Fluorescencein situhybridization with the PXR1 cDNA and two cosmids containing the PXR1 gene was used for the cytogenetic assignment of the gene to chromosome 12p13. Analysis of a radiation hybrid panel for chromosome 12 with a PXR1 gene-based sequence-tagged site (STS) mapped the PXR1 gene between TPI1 and D12S1089. The STS also detects an unusual, highly polymorphic, short tandem repeat (heterozygosity, 0.82). This repeat shows one set of short alleles containing a pentanucleotide repeat and one set of long alleles containing a complex array of different pentanucleotides.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 0888-7543eISSN: 1089-8646DOI: 10.1006/geno.1995.0032Titel-ID: cdi_proquest_miscellaneous_77812564
- Format
- –
- Schlagworte
- Alleles, Base Sequence, Biological and medical sciences, Chromosome Mapping, Chromosomes, Human, Pair 12, Classical genetics, quantitative genetics, hybrids, DNA Primers, Fundamental and applied biological sciences. Psychology, Genetics of eukaryotes. Biological and molecular evolution, Human, Humans, Hybrid Cells - radiation effects, In Situ Hybridization, Fluorescence, Molecular Sequence Data, Peroxisome-Targeting Signal 1 Receptor, Receptors, Cytoplasmic and Nuclear - genetics