Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Clinic Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 20
Probentyp genomic DNA
Clinic Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Kelley-Seegmiller-Syndrom
HPRT1
Lesch-Nyhan-Syndrom
HPRT1

Referenzen:

1.

Rosenstraus M et al. (1975) Isolation of mammalian cell mutants deficient in glucose-6-phosphate dehydrogenase activity: linkage to hypoxanthine phosphoribosyl transferase.

[^]
2.

Shows TB et al. (1975) Human X-Linked genes regionally mapped utilizing X-autosome translocations and somatic cell hybrids.

[^]
3.

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.

[^]
4.

De Gregorio L et al. (2000) An unexpected affected female patient in a classical Lesch-Nyhan family.

[^]
5.

Gutensohn W et al. (1979) Partial deficiency of hypoxanthine-phosphoribosyltransferase:evidence for a structural mutation in a patient with gout.

[^]
6.

Gartler SM et. al. (1975) Half chromatid mutations: transmission in humans?

[^]
7.

Toyo-Oka T et al. (1975) X-linked hypoxanthine-guanine phosphoribosyltransferase deficiency without neurological disorders. a report of a family.

[^]
8.

Mizunuma M et al. (2001) A recurrent large Alu-mediated deletion in the hypoxanthine phosphoribosyltransferase (HPRT1) gene associated with Lesch-Nyhan syndrome.

[^]
9.

McKeran RO et al. (1975) The diagnosis of the carrier state for the Lesch--Nyhan syndrome.

[^]
10.

Colgin LM et al. (2002) The unexpected landscape of in vivo somatic mutation in a human epithelial cell lineage.

[^]
11.

Fox IH et al. (1975) Hypoxanthine-guanine phosphoribosyltransferase. Characterization of a mutant in a patient with gout.

[^]
12.

Srivastava T et al. (2002) Childhood hyperuricemia and acute renal failure resulting from a missense mutation in the HPRT gene.

[^]
13.

Francke U et al. (1976) The occurrence of new mutants in the X-linked recessive Lesch-Nyhan disease.

[^]
14.

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.

[^]
15.

LESCH M et al. (1964) A FAMILIAL DISORDER OF URIC ACID METABOLISM AND CENTRAL NERVOUS SYSTEM FUNCTION.

[^]
16.

HOEFNAGEL D et al. (1965) HEREDITARY CHOREOATHETOSIS, SELF-MUTILATION AND HYPERURICEMIA IN YOUNG MALES.

[^]
17.

van Bogaert P et al. (1992) Lesch-Nyhan syndrome in a girl.

[^]
18.

Sculley DG et al. (1992) A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.

[^]
19.

Lightfoot T et al. (1992) The point mutation of hypoxanthine-guanine phosphoribosyltransferase (HPRTEdinburgh) and detection by allele-specific polymerase chain reaction.

[^]
20.

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.

[^]
21.

Monnat RJ et al. (1992) Molecular structure and genetic stability of human hypoxanthine phosphoribosyltransferase (HPRT) gene duplications.

[^]
22.

Keebaugh AC et al. (2007) Gene duplication and inactivation in the HPRT gene family.

[^]
23.

Francke U et. al. (1977) Answer to criticism of Morton and Lalouel.

[^]
24.

Gordon RB et al. (1991) The molecular characterisation of HPRT CHERMSIDE and HPRT COORPAROO: two Lesch-Nyhan patients with reduced amounts of mRNA.

[^]
25.

Sculley DG et al. (1991) Hypoxanthine-guanine phosphoribosyltransferase deficiency: analysis of HPRT mutations by direct sequencing and allele-specific amplification.

[^]
26.

Davidson BL et al. (1991) Identification of 17 independent mutations responsible for human hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.

[^]
27.

Tarlé SA et al. (1991) Determination of the mutations responsible for the Lesch-Nyhan syndrome in 17 subjects.

[^]
28.

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).

[^]
29.

Monk M et al. (1990) Preimplantation sexing and diagnosis of hypoxanthine phosphoribosyl transferase deficiency in mice by biochemical microassay.

[^]
30.

Fujimori S et al. (1990) Hypoxanthine guanine phosphoribosyltransferase deficiency: nucleotide substitution causing Lesch-Nyhan syndrome identified for the first time among Japanese.

[^]
31.

Edwards A et al. (1990) Automated DNA sequencing of the human HPRT locus.

[^]
32.

Gibbs RA et al. (1990) Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families.

[^]
33.

Skopek TR et al. (1990) Molecular analyses of a Lesch-Nyhan syndrome mutation (hprtMontreal) by use of T-lymphocyte cultures.

[^]
34.

Seegmiller JE et al. (1989) Contributions of Lesch-Nyhan syndrome to the understanding of purine metabolism.

[^]
35.

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.

[^]
36.

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.

[^]
37.

Davidson BL et al. (1989) Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in ten subjects determined by direct sequencing of amplified transcripts.

[^]
38.

Ogasawara N et al. (1989) Molecular analysis of a female Lesch-Nyhan patient.

[^]
39.

Yang TP et al. (1988) Spontaneous reversion of novel Lesch-Nyhan mutation by HPRT gene rearrangement.

[^]
40.

Dobrovic A et al. (1987) A HindIII RFLP for the HPRT pseudogene on chromosome 3 (HPRTP1).

[^]
41.

Fujimori S et al. (1988) Identification of a single nucleotide change in a mutant gene for hypoxanthine-guanine phosphoribosyltransferase (HPRT Ann Arbor).

[^]
42.

Sinnett D et al. (1988) Lesch-Nyhan syndrome: molecular investigation of three French Canadian families using a hypoxanthine-guanine phosphoribosyltransferase cDNA probe.

[^]
43.

Davidson BL et al. (1989) Human hypoxanthine-guanine phosphoribosyltransferase deficiency. The molecular defect in a patient with gout (HPRTAshville).

[^]
44.

Fujimori S et al. (1989) Identification of a single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRTYale) responsible for Lesch-Nyhan syndrome.

[^]
45.

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.

[^]
46.

Gibbs RA et al. (1989) Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA.

[^]
47.

Kim SH et al. (1986) The organization of the human HPRT gene.

[^]
48.

Patel PI et al. (1986) Fine structure of the human hypoxanthine phosphoribosyltransferase gene.

[^]
49.

Kuehn MR et al. () A potential animal model for Lesch-Nyhan syndrome through introduction of HPRT mutations into mice.

[^]
50.

Davidson BL et al. (1988) Hypoxanthine-guanine phosphoribosyltransferase. Genetic evidence for identical mutations in two partially deficient subjects.

[^]
51.

Simpson D et al. (1988) A method for specific cloning and sequencing of human hprt cDNA for mutation analysis.

[^]
52.

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.

[^]
53.

Davidson BL et al. (1988) Genetic basis of hypoxanthine guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome (HPRTFlint).

[^]
54.

Gibbs RA et al. (1987) Identification and localization of mutations at the Lesch-Nyhan locus by ribonuclease A cleavage.

[^]
55.

Doetschman T et al. () Targetted correction of a mutant HPRT gene in mouse embryonic stem cells.

[^]
56.

Caskey CT et al. (1979) The HPRT locus.

[^]
57.

Hooper M et al. () HPRT-deficient (Lesch-Nyhan) mouse embryos derived from germline colonization by cultured cells.

[^]
58.

Stout JT et al. (1985) HPRT: gene structure, expression, and mutation.

[^]
59.

Wilson JM et. al. (1986) A molecular survey of hypoxanthine-guanine phosphoribosyltransferase deficiency in man.

[^]
60.

Myers RM et al. (1985) Detection of single base substitutions by ribonuclease cleavage at mismatches in RNA:DNA duplexes.

[^]
61.

Kelley WN et al. (1967) A specific enzyme defect in gout associated with overproduction of uric acid.

[^]
62.

Nabholz M et. al. (1969) Genetic analysis with human--mouse somatic cell hybrids.

[^]
63.

McDonald JA et al. (1971) Lesch-Nyhan syndrome: altered kinetic properties of mutant enzyme.

[^]
64.

Ruddle FH et al. () Linkage studies employing mouse--man somatic cell hybrids.

[^]
65.

Silvers DN et. al. (1972) Detection of heterozygote in Lesch-Nyhan disease by hair-root analysis.

[^]
66.

Dancis J et al. (1973) Disparate enzyme activity in erythocytes and leukocytes. A variant of hypoxanthine phosphoribosyl-transferase deficiency with an unstable enzyme.

[^]
67.

Benke PJ et al. (1973) Hypoxanthine-guanine phosphoribosyltransferase variant associated with accelerated purine synthesis.

[^]
68.

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.

[^]
69.

Emmerson BT et al. (1974) Absence of measurable linkage between the loci for hypoxanthine-guanine phosphoribosyltransferase and deutan colorblindness.

[^]
70.

Benke PJ et al. (1973) In vitro effects of magnesium ions on mutant cells from patients with the Lesch-Nyhan syndrome.

[^]
71.

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.

[^]
72.

Migeon BR et. al. (1968) X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: heterozygote has two clonal populations.

[^]
73.

Kelley WN et al. (1969) Hypoxanthine-guanine phosphoribosyltransferase deficiency in gout.

[^]
74.

DeMars R et al. (1969) Lesch-Nyhan mutation: prenatal detection with amniotic fluid cells.

[^]
75.

Yü TF et al. (1972) Rarity of X-linked partial hypoxanthine-guanine phosphoribosyltransferase deficiency in a large gouty population.

[^]
76.

Emmerson BT et al. (1972) Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase: intermediate enzyme deficiency in heterozygote red cells.

[^]
77.

Epstein CJ et al. (1972) Expression of the mammalian X chromosome before and after fertilization.

[^]
78.

Greene ML et al. (1972) Clinical features of patients with the "partial" deficiency of the X-linked uricaciduria enzyme.

[^]
79.

Nyhan WL et al. (1970) Hemizygous expression of glucose-6-phosphate dehydrogenase in erythrocytes of heterozygotes for the Lesch-Nyhan syndrome.

[^]
80.

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.

[^]
81.

Greene ML et. al. (1970) Hypoxanthine-guanine phosphoribosyltransferase deficiency and Xg blood group.

[^]
82.

Kogut MD et al. (1970) Disorder of purine metabolism due to partial deficiency of hypoxanthine-guanine phosphoribosyltransferase. A study of a family.

[^]
83.

Migeon BR et al. (1970) X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: detection of heterozygotes by selective medium.

[^]
84.

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.

[^]
85.

Henderson JF et al. (1969) Inheritance of purine phosphoribosyltransferases in man.

[^]
86.

Sass JK et al. (1965) Juvenile gout with brain involvement.

[^]
87.

Newcombe DS et al. (1966) Treatment of x-linked primary hyperuricemia with allopurinol.

[^]
88.

Shapiro SL et al. (1966) X-linked recessive inheritance of a syndrome of mental retardation with hyperuricemia.

[^]
89.

Seegmiller JE et. al. (1967) Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis.

[^]
90.

Rosenbloom FM et. al. (1967) Inherited disorder of purine metabolism. Correlation between central nervous system dysfunction and biochemical defects.

[^]
91.

Yang TP et al. () Molecular evidence for new mutation at the hprt locus in Lesch-Nyhan patients.

[^]
92.

Lloyd KG et. al. (1981) Biochemical evidence of dysfunction of brain neurotransmitters in the Lesch-Nyhan syndrome.

[^]
93.

Wilson JM et al. (1983) Hypoxanthine-guanine phosphoribosyltransferase deficiency. The molecular basis of the clinical syndromes.

[^]
94.

Snyder FF et al. (1984) Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase with reduced affinity for PP-ribose-P in four related males with gout.

[^]
95.

Jolly DJ et al. (1983) Isolation and characterization of a full-length expressible cDNA for human hypoxanthine phosphoribosyl transferase.

[^]
96.

Nussbaum RL et al. (1983) A three-allele restriction-fragment-length polymorphism at the hypoxanthine phosphoribosyltransferase locus in man.

[^]
97.

Miller AD et al. (1983) A transmissible retrovirus expressing human hypoxanthine phosphoribosyltransferase (HPRT): gene transfer into cells obtained from humans deficient in HPRT.

[^]
98.

Wilson JM et al. (1983) Human hypoxanthine-guanine phosphoribosyltransferase. Detection of a mutant allele by restriction endonuclease analysis.

[^]
99.

Melton DW et al. (1984) Structure, expression, and mutation of the hypoxanthine phosphoribosyltransferase gene.

[^]
100.

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.

[^]
101.

Holland PC et al. (1983) Hypoxanthine guanine phosphoribosyl transferase deficiency presenting with gout and renal failure in infancy.

[^]
102.

Wilson JM et al. (1984) Human hypoxanthine-guanine phosphoribosyltransferase. Structural alteration in a dysfunctional enzyme variant (HPRTMunich) isolated from a patient with gout.

[^]
103.

Wilson JM et al. (1983) Human hypoxanthine-guanine phosphoribosyltransferase.

[^]
104.

Wilson JM et al. (1983) Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome.

[^]
105.

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.

[^]
106.

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.

[^]
107.

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.

[^]
108.

Jolly DJ et al. (1982) Isolation of a genomic clone partially encoding human hypoxanthine phosphoribosyltransferase.

[^]
109.

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.

[^]
110.

Fenwick RG et al. (1980) Reversion of a mutation affecting the molecular weight of HGPRT: intragenic suppression and localization of X-linked genes.

[^]
111.

Strauss M et al. (1981) HGPRT structural gene mutation in Lesch-Nyhan-syndrome as indicated by antigenic activity and reversion of the enzyme deficiency.

[^]
112.

Rijksen G et al. (1981) Partial hypoxanthine-guanine phosphoribosyl transferase deficiency with full expression of the Lesch-Nyhan syndrome.

[^]
113.

Wilson JM et al. (1981) Human hypoxanthine-guanine phosphoribosyltransferase. Purification and characterization of mutant forms of the enzyme.

[^]
114.

Zannis VI et al. (1980) Characterization of the subunit composition of HGPRTase from human erythrocytes and cultured fibroblasts.

[^]
115.

Winter RM et al. (1980) Estimation of male to female ratio of mutation rates from carrier-detection tests in X-linked disorders.

[^]
116.

Strauss GH et. al. (1980) An enumerative assay of purine analogue resistant lymphocytes in women heterozygous for the Lesch-Nyhan Mutation.

[^]
117.

Renwick PJ et al. (1995) Southern analysis reveals a large deletion at the hypoxanthine phosphoribosyltransferase locus in a patient with Lesch-Nyhan syndrome.

[^]
118.

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.

[^]
119.

Lightfoot T et al. (1994) Sequence, expression and characterization of HPRTMoose Jaw: a point mutation resulting in cooperativity and decreased substrate affinities.

[^]
120.

Boyd M et al. (1993) Screening for molecular pathologies in Lesch-Nyhan syndrome.

[^]
121.

Willers I et al. (1977) Genetic heterogeneity of hypoxanthine-phosphoribosyl transferase in human fibroblasts of 3 families.

[^]
122.

Wu CL et al. (1993) Production of a model for Lesch-Nyhan syndrome in hypoxanthine phosphoribosyltransferase-deficient mice.

[^]
123.

Ernst M et al. (1996) Presynaptic dopaminergic deficits in Lesch-Nyhan disease.

[^]
124.

Nyhan WL et al. (1996) New approaches to understanding Lesch-Nyhan disease.

[^]
125.

Wong DF et. al. (1996) Dopamine transporters are markedly reduced in Lesch-Nyhan disease in vivo.

[^]
126.

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.

[^]
127.

Morton NE et al. (1977) Genetic epidemiology of Lesch-Nyhan disease.

[^]
128.

None (1977) A probable sex difference in some mutation rates.

[^]
129.

Graham GW et. al. (1996) Prenatal diagnosis by enzyme analysis in 15 pregnancies at risk for the Lesch-Nyhan syndrome.

[^]
130.

Engle SJ et al. (1996) HPRT-APRT-deficient mice are not a model for lesch-nyhan syndrome.

[^]
131.

Malleson PN et al. (1996) The incidence of pediatric rheumatic diseases: results from the Canadian Pediatric Rheumatology Association Disease Registry.

[^]
132.

Hashimi S et al. (1976) Further evidence of X-linkage of hypoxanthine phosphoribosyl-transferase in the mouse.

[^]

 

 
Ihre Nachricht: