Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:2.4.2.8 (hypoxanthine-guanine phosphoribosyltransferase)
 2,527 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In the search for homologous chromosome regions in man and mouse, the locus for cytoplasmic superoxide dismutase (SOD-1; superoxide:superoxide oxidoreductase, EC 1.15.1.1) is of particular interest. In man, the SOD-1 gene occupies the same subregion of chromosome 21 that causes Down syndrome when present in triplicate. Although not obviously implicated in the pathogenesis, SOD-1 is considered to be a biochemical marker for this aneuploid condition. Using a set of 29 mouse-Chinese hamster somatic cell hybrids, we assign Sod-1 to mouse chromosome 16. Isoelectric focusing permits distinction between mouse and Chinese hamster isozymes, and trypsin/Giemsa banding distinguishes mouse from Chinese hamster chromosomes. The mouse fibroblasts used were derived from a male mouse carrying Searle's T(X;16)16H reciprocal translocation in which chromosomes X and 16 have exchanged parts. Analysis of informative hybrids leads to regional assignment of Sod-1 to the distal half of mouse chromosome 16 (16B4 --> ter). Because the Chinese hamster cell line (380) used for cell hybridization is deficient in hypoxanthine phosphoribosyltransferase (HPRT; IMP: pyrophosphate phosphoribosyltransferase, EC 2.4.2.8), that part of the mouse X chromosome carrying the complementing Hprt gene can be identified by selection in hypoxanthine/aminopterin/thymidine medium and counterselection in 8-azaguanine. Mouse Hprt is on the X(T) translocation product containing the proximal region X cen --> XD.
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PMID:Assignment of the gene for cytoplasmic superoxide dismutase (Sod-1) to a region of chromosome 16 and of Hprt to a region of the X chromosome in the mouse. 29 39

During the past few years, rapid prenatal diagnosis of chromosome aneuploidies has been successfully achieved by quantitative fluorescent PCR (QF-PCR) amplification of chromosome-specific small tandem repeats (STR). This approach has proven to be very useful in clinical settings, since it allows the detection of major numerical disorders in a few hours after sampling. For the detection of Turner's syndrome (45,X), several highly polymorphic STR on the X chromosome are needed in order to reduce the likelihood that a normal female might be homozygous for all sequences and, consequently, that the test could fail to discriminate between samples retrieved from a Turner's and a normal female fetus. Here we report a new method for rapid and accurate detection of X chromosome copy number in prenatal samples that does not depend on STR heterozygosity. The test is based on QF-PCR amplification of the X-linked HPRT together with the autosomal D21S1411 used as internal control for quantification. In the course of this study, this assay allowed the prenatal diagnosis of a rare case of a normal female homozygous for four selected highly polymorphic X chromosome STR, as well as the assessment of the normal chromosome complement of a fetus homozygous for five chromosome 21 markers.
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PMID:X chromosome dosage by quantitative fluorescent PCR and rapid prenatal diagnosis of sex chromosome aneuploidies. 1239 18