Hypoxanthin-Phosphoribosyltransferase 1
Das Enzym, welches durch das Gen HPRT1 kodiert wird spielt eine wichtige Rolle im Purinabbau. Mutationen führen je nach schwere der Funktionsbeeinträchtigung zum x-chromosomal rezessiven Lesch-Nyhan-Syndrom oder zu familiärer Gicht.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Morton NE et al. (1977) Genetic epidemiology of Lesch-Nyhan disease.
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2. |
None (1977) A probable sex difference in some mutation rates.
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3. |
Gartler SM et al. (1975) Half chromatid mutations: transmission in humans?
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4. |
Francke U et al. (1976) The occurrence of new mutants in the X-linked recessive Lesch-Nyhan disease.
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5. |
Wilson JM et al. (1986) A molecular survey of hypoxanthine-guanine phosphoribosyltransferase deficiency in man.
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6. |
Kelley WN et al. (1967) A specific enzyme defect in gout associated with overproduction of uric acid.
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7. |
Nabholz M et al. (1969) Genetic analysis with human--mouse somatic cell hybrids.
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8. |
McDonald JA et al. (1971) Lesch-Nyhan syndrome: altered kinetic properties of mutant enzyme.
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9. |
Silvers DN et al. (1972) Detection of heterozygote in Lesch-Nyhan disease by hair-root analysis.
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10. |
Migeon BR et al. (1968) X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: heterozygote has two clonal populations.
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11. |
Yü TF et al. (1972) Rarity of X-linked partial hypoxanthine-guanine phosphoribosyltransferase deficiency in a large gouty population.
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12. |
Nyhan WL et al. (1970) Hemizygous expression of glucose-6-phosphate dehydrogenase in erythrocytes of heterozygotes for the Lesch-Nyhan syndrome.
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13. |
Greene ML et al. (1970) Hypoxanthine-guanine phosphoribosyltransferase deficiency and Xg blood group.
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14. |
Henderson JF et al. (1969) Inheritance of purine phosphoribosyltransferases in man.
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15. |
Seegmiller JE et al. (1967) Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis.
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16. |
Rosenbloom FM et al. (1967) Inherited disorder of purine metabolism. Correlation between central nervous system dysfunction and biochemical defects.
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17. |
Lloyd KG et al. (1981) Biochemical evidence of dysfunction of brain neurotransmitters in the Lesch-Nyhan syndrome.
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18. |
Strauss GH et al. (1980) An enumerative assay of purine analogue resistant lymphocytes in women heterozygous for the Lesch-Nyhan Mutation.
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19. |
Ernst M et al. (1996) Presynaptic dopaminergic deficits in Lesch-Nyhan disease.
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20. |
Nyhan WL et al. (1996) New approaches to understanding Lesch-Nyhan disease.
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21. |
Wong DF et al. (1996) Dopamine transporters are markedly reduced in Lesch-Nyhan disease in vivo.
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22. |
Graham GW et al. (1996) Prenatal diagnosis by enzyme analysis in 15 pregnancies at risk for the Lesch-Nyhan syndrome.
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23. |
Zoref-Shani E et al. (2000) Kelley-Seegmiller syndrome due to a unique variant of hypoxanthine-guanine phosphoribosyltransferase: reduced affinity for 5-phosphoribosyl-1-pyrophosphate manifested only at low, physiological substrate concentrations.
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24. |
Srivastava T et al. (2002) Childhood hyperuricemia and acute renal failure resulting from a missense mutation in the HPRT gene.
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25. |
LESCH M et al. (1964) A FAMILIAL DISORDER OF URIC ACID METABOLISM AND CENTRAL NERVOUS SYSTEM FUNCTION.
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26. |
HOEFNAGEL D et al. (1965) HEREDITARY CHOREOATHETOSIS, SELF-MUTILATION AND HYPERURICEMIA IN YOUNG MALES.
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27. |
Francke U et al. (1977) Answer to criticism of Morton and Lalouel.
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28. |
Rosenstraus M et al. (1975) Isolation of mammalian cell mutants deficient in glucose-6-phosphate dehydrogenase activity: linkage to hypoxanthine phosphoribosyl transferase.
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29. |
Shows TB et al. (1975) Human X-Linked genes regionally mapped utilizing X-autosome translocations and somatic cell hybrids.
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30. |
De Gregorio L et al. (2000) An unexpected affected female patient in a classical Lesch-Nyhan family.
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31. |
Gutensohn W et al. (1979) Partial deficiency of hypoxanthine-phosphoribosyltransferase:evidence for a structural mutation in a patient with gout.
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32. |
Toyo-Oka T et al. (1975) X-linked hypoxanthine-guanine phosphoribosyltransferase deficiency without neurological disorders. a report of a family.
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33. |
Mizunuma M et al. (2001) A recurrent large Alu-mediated deletion in the hypoxanthine phosphoribosyltransferase (HPRT1) gene associated with Lesch-Nyhan syndrome.
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34. |
McKeran RO et al. (1975) The diagnosis of the carrier state for the Lesch--Nyhan syndrome.
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35. |
Colgin LM et al. (2002) The unexpected landscape of in vivo somatic mutation in a human epithelial cell lineage.
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36. |
Fox IH et al. (1975) Hypoxanthine-guanine phosphoribosyltransferase. Characterization of a mutant in a patient with gout.
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37. |
Fujimori S et al. (1992) A germ line mutation within the coding sequence for the putative 5-phosphoribosyl-1-pyrophosphate binding site of hypoxanthine-guanine phosphoribosyltransferase (HPRT) in a Lesch-Nyhan patient: missense mutations within a functionally important region probably cause disease.
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38. |
van Bogaert P et al. (1992) Lesch-Nyhan syndrome in a girl.
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39. |
Sculley DG et al. (1992) A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.
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40. |
Lightfoot T et al. (1992) The point mutation of hypoxanthine-guanine phosphoribosyltransferase (HPRTEdinburgh) and detection by allele-specific polymerase chain reaction.
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41. |
Marcus S et al. (1992) Mutation analysis and prenatal diagnosis in a Lesch-Nyhan family showing non-random X-inactivation interfering with carrier detection tests.
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42. |
Monnat RJ et al. (1992) Molecular structure and genetic stability of human hypoxanthine phosphoribosyltransferase (HPRT) gene duplications.
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43. |
Keebaugh AC et al. (2007) Gene duplication and inactivation in the HPRT gene family.
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44. |
Gordon RB et al. (1991) The molecular characterisation of HPRT CHERMSIDE and HPRT COORPAROO: two Lesch-Nyhan patients with reduced amounts of mRNA.
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45. |
Sculley DG et al. (1991) Hypoxanthine-guanine phosphoribosyltransferase deficiency: analysis of HPRT mutations by direct sequencing and allele-specific amplification.
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46. |
Davidson BL et al. (1991) Identification of 17 independent mutations responsible for human hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.
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47. |
Tarlé SA et al. (1991) Determination of the mutations responsible for the Lesch-Nyhan syndrome in 17 subjects.
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48. |
Gordon RB et al. (1990) Identification of a single nucleotide substitution in the coding sequence of in vitro amplified cDNA from a patient with partial HPRT deficiency (HPRTBRISBANE).
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49. |
Monk M et al. (1990) Preimplantation sexing and diagnosis of hypoxanthine phosphoribosyl transferase deficiency in mice by biochemical microassay.
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50. |
Fujimori S et al. (1990) Hypoxanthine guanine phosphoribosyltransferase deficiency: nucleotide substitution causing Lesch-Nyhan syndrome identified for the first time among Japanese.
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51. |
Edwards A et al. (1990) Automated DNA sequencing of the human HPRT locus.
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52. |
Gibbs RA et al. (1990) Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families.
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53. |
Skopek TR et al. (1990) Molecular analyses of a Lesch-Nyhan syndrome mutation (hprtMontreal) by use of T-lymphocyte cultures.
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54. |
None (1989) Contributions of Lesch-Nyhan syndrome to the understanding of purine metabolism.
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55. |
Snyder FF et al. (1989) Hypoxanthine-guanine phosphoribosyltransferase deficiency in three brothers with gout: characterization of a variant, HPRTEdinburgh, having altered isoelectric point, increased thermal lability and normal levels of messenger RNA.
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56. |
Koller BH et al. (1989) Germ-line transmission of a planned alteration made in a hypoxanthine phosphoribosyltransferase gene by homologous recombination in embryonic stem cells.
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57. |
Davidson BL et al. (1989) Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in ten subjects determined by direct sequencing of amplified transcripts.
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58. |
Ogasawara N et al. (1989) Molecular analysis of a female Lesch-Nyhan patient.
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59. |
Yang TP et al. (1988) Spontaneous reversion of novel Lesch-Nyhan mutation by HPRT gene rearrangement.
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60. |
Dobrovic A et al. (1987) A HindIII RFLP for the HPRT pseudogene on chromosome 3 (HPRTP1).
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61. |
Fujimori S et al. (1988) Identification of a single nucleotide change in a mutant gene for hypoxanthine-guanine phosphoribosyltransferase (HPRT Ann Arbor).
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62. |
Sinnett D et al. (1988) Lesch-Nyhan syndrome: molecular investigation of three French Canadian families using a hypoxanthine-guanine phosphoribosyltransferase cDNA probe.
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63. |
Davidson BL et al. (1989) Human hypoxanthine-guanine phosphoribosyltransferase deficiency. The molecular defect in a patient with gout (HPRTAshville).
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64. |
Fujimori S et al. (1989) Identification of a single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRTYale) responsible for Lesch-Nyhan syndrome.
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65. |
Francke U et al. (1979) 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.
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66. |
Gibbs RA et al. (1989) Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA.
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67. |
Kim SH et al. (1986) The organization of the human HPRT gene.
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68. |
Patel PI et al. (1986) Fine structure of the human hypoxanthine phosphoribosyltransferase gene.
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69. |
Kuehn MR et al. () A potential animal model for Lesch-Nyhan syndrome through introduction of HPRT mutations into mice.
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70. |
Davidson BL et al. (1988) Hypoxanthine-guanine phosphoribosyltransferase. Genetic evidence for identical mutations in two partially deficient subjects.
|
71. |
Simpson D et al. (1988) A method for specific cloning and sequencing of human hprt cDNA for mutation analysis.
|
72. |
Cariello NF et al. (1988) Resolution of a missense mutant in human genomic DNA by denaturing gradient gel electrophoresis and direct sequencing using in vitro DNA amplification: HPRT Munich.
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73. |
Davidson BL et al. (1988) Genetic basis of hypoxanthine guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome (HPRTFlint).
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74. |
Gibbs RA et al. (1987) Identification and localization of mutations at the Lesch-Nyhan locus by ribonuclease A cleavage.
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75. |
Doetschman T et al. () Targetted correction of a mutant HPRT gene in mouse embryonic stem cells.
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76. |
Caskey CT et al. (1979) The HPRT locus.
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77. |
Hooper M et al. () HPRT-deficient (Lesch-Nyhan) mouse embryos derived from germline colonization by cultured cells.
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78. |
Stout JT et al. (1985) HPRT: gene structure, expression, and mutation.
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79. |
Myers RM et al. (1985) Detection of single base substitutions by ribonuclease cleavage at mismatches in RNA:DNA duplexes.
|
80. |
None () Linkage studies employing mouse--man somatic cell hybrids.
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81. |
Dancis J et al. (1973) Disparate enzyme activity in erythocytes and leukocytes. A variant of hypoxanthine phosphoribosyl-transferase deficiency with an unstable enzyme.
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82. |
Benke PJ et al. (1973) Hypoxanthine-guanine phosphoribosyltransferase variant associated with accelerated purine synthesis.
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83. |
McDonald JA et al. (1972) Lesch-Nyhan syndrome: absence of the mutant enzyme in erythrocytes of a heterozygote for both normal and mutant hypoxanthine-guanine phosphoribosyl transferase.
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84. |
Emmerson BT et al. (1974) Absence of measurable linkage between the loci for hypoxanthine-guanine phosphoribosyltransferase and deutan colorblindness.
|
85. |
Benke PJ et al. (1973) In vitro effects of magnesium ions on mutant cells from patients with the Lesch-Nyhan syndrome.
|
86. |
Francke U et al. (1974) Linkage relationships of X-linked enzymes glucose-6-phosphate dehydrogenase and hypoxanthine guanine phosphoribosyltransferase: recombination in female offspring of compound heterozygotes.
|
87. |
Kelley WN et al. (1969) Hypoxanthine-guanine phosphoribosyltransferase deficiency in gout.
|
88. |
DeMars R et al. (1969) Lesch-Nyhan mutation: prenatal detection with amniotic fluid cells.
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89. |
Emmerson BT et al. (1972) Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase: intermediate enzyme deficiency in heterozygote red cells.
|
90. |
None (1972) Expression of the mammalian X chromosome before and after fertilization.
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91. |
None (1972) Clinical features of patients with the "partial" deficiency of the X-linked uricaciduria enzyme.
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92. |
Cox RP et al. (1970) Evidence for transfer of enzyme product as the basis of metabolic cooperation between tissue culture fibroblasts of Lesch-Nyhan disease and normal cells.
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93. |
Kogut MD et al. (1970) Disorder of purine metabolism due to partial deficiency of hypoxanthine-guanine phosphoribosyltransferase. A study of a family.
|
94. |
None (1970) X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: detection of heterozygotes by selective medium.
|
95. |
Goss SJ et al. (1977) Gene transfer by means of cell fusion I. Statistical mapping of the human X-chromosome by analysis of radiation-induced gene segregation.
|
96. |
Sass JK et al. (1965) Juvenile gout with brain involvement.
|
97. |
Newcombe DS et al. (1966) Treatment of x-linked primary hyperuricemia with allopurinol.
|
98. |
Shapiro SL et al. (1966) X-linked recessive inheritance of a syndrome of mental retardation with hyperuricemia.
|
99. |
Yang TP et al. () Molecular evidence for new mutation at the hprt locus in Lesch-Nyhan patients.
|
100. |
Wilson JM et al. (1983) Hypoxanthine-guanine phosphoribosyltransferase deficiency. The molecular basis of the clinical syndromes.
|
101. |
Snyder FF et al. (1984) Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase with reduced affinity for PP-ribose-P in four related males with gout.
|
102. |
Jolly DJ et al. (1983) Isolation and characterization of a full-length expressible cDNA for human hypoxanthine phosphoribosyl transferase.
|
103. |
Nussbaum RL et al. (1983) A three-allele restriction-fragment-length polymorphism at the hypoxanthine phosphoribosyltransferase locus in man.
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104. |
Miller AD et al. (1983) A transmissible retrovirus expressing human hypoxanthine phosphoribosyltransferase (HPRT): gene transfer into cells obtained from humans deficient in HPRT.
|
105. |
Wilson JM et al. (1983) Human hypoxanthine-guanine phosphoribosyltransferase. Detection of a mutant allele by restriction endonuclease analysis.
|
106. |
Melton DW et al. (1984) Structure, expression, and mutation of the hypoxanthine phosphoribosyltransferase gene.
|
107. |
Wilson JM et al. (1983) Human hypoxanthine (guanine) phosphoribosyltransferase: an amino acid substitution in a mutant form of the enzyme isolated from a patient with gout.
|
108. |
Holland PC et al. (1983) Hypoxanthine guanine phosphoribosyl transferase deficiency presenting with gout and renal failure in infancy.
|
109. |
Wilson JM et al. (1984) Human hypoxanthine-guanine phosphoribosyltransferase. Structural alteration in a dysfunctional enzyme variant (HPRTMunich) isolated from a patient with gout.
|
110. |
Wilson JM et al. (1983) Human hypoxanthine-guanine phosphoribosyltransferase.
|
111. |
Wilson JM et al. (1983) Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome.
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112. |
Dempsey JL et al. (1983) Detection of the carrier state for an X-linked disorder, the Lesch-Nyhan syndrome, by the use of lymphocyte cloning.
|
113. |
Pai GS et al. (1980) Localization of loci for hypoxanthine phosphoribosyltransferase and glucose-6-phosphate dehydrogenase and biochemical evidence of nonrandom X chromosome expression from studies of a human X-autosome translocation.
|
114. |
Brennand J et al. (1982) Cloned cDNA sequences of the hypoxanthine/guanine phosphoribosyltransferase gene from a mouse neuroblastoma cell line found to have amplified genomic sequences.
|
115. |
Jolly DJ et al. (1982) Isolation of a genomic clone partially encoding human hypoxanthine phosphoribosyltransferase.
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116. |
Wilson JM et al. (1982) Human hypoxanthine-guanine phosphoribosyltransferase. Demonstration of structural variants in lymphoblastoid cells derived from patients with a deficiency of the enzyme.
|
117. |
None (1980) Reversion of a mutation affecting the molecular weight of HGPRT: intragenic suppression and localization of X-linked genes.
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118. |
Strauss M et al. (1981) HGPRT structural gene mutation in Lesch-Nyhan-syndrome as indicated by antigenic activity and reversion of the enzyme deficiency.
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119. |
Rijksen G et al. (1981) Partial hypoxanthine-guanine phosphoribosyl transferase deficiency with full expression of the Lesch-Nyhan syndrome.
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120. |
Wilson JM et al. (1981) Human hypoxanthine-guanine phosphoribosyltransferase. Purification and characterization of mutant forms of the enzyme.
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121. |
Zannis VI et al. (1980) Characterization of the subunit composition of HGPRTase from human erythrocytes and cultured fibroblasts.
|
122. |
None (1980) Estimation of male to female ratio of mutation rates from carrier-detection tests in X-linked disorders.
|
123. |
Renwick PJ et al. (1995) Southern analysis reveals a large deletion at the hypoxanthine phosphoribosyltransferase locus in a patient with Lesch-Nyhan syndrome.
|
124. |
Zoref E et al. (1979) Increased de novo purine synthesis in cultured skin fibroblasts from heterozygotes for the Lesch-Nyhan syndrome. A sensitive marker for carrier detection.
|
125. |
Lightfoot T et al. (1994) Sequence, expression and characterization of HPRTMoose Jaw: a point mutation resulting in cooperativity and decreased substrate affinities.
|
126. |
Boyd M et al. (1993) Screening for molecular pathologies in Lesch-Nyhan syndrome.
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127. |
Willers I et al. (1977) Genetic heterogeneity of hypoxanthine-phosphoribosyl transferase in human fibroblasts of 3 families.
|
128. |
Wu CL et al. (1993) Production of a model for Lesch-Nyhan syndrome in hypoxanthine phosphoribosyltransferase-deficient mice.
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129. |
Aral B et al. (1996) Novel nonsense mutation in the hypoxanthine guanine phosphoribosyltransferase gene and nonrandom X-inactivation causing Lesch-Nyhan syndrome in a female patient.
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130. |
Engle SJ et al. (1996) HPRT-APRT-deficient mice are not a model for lesch-nyhan syndrome.
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131. |
Malleson PN et al. (1996) The incidence of pediatric rheumatic diseases: results from the Canadian Pediatric Rheumatology Association Disease Registry.
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132. |
Hashimi S et al. (1976) Further evidence of X-linkage of hypoxanthine phosphoribosyl-transferase in the mouse.
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133. |
NCBI article
NCBI 3251
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134. |
OMIM.ORG article
Omim 308000
|
135. |
Orphanet article
Orphanet ID 122476
|
136. |
Wikipedia Artikel
Wikipedia DE (Hypoxanthin-Guanin-Phosphoribosyltransferase)
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Update: 14. August 2020