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  • 1
    Electronic Resource
    Electronic Resource
    Two populations of heterozygote erythrocytes in moderate hypoxanthine guanine phosphoribosyltransferase deficiency (1976)
    [s.l.] : Nature Publishing Group
    Nature 264 (1976), S. 172-174 
    Details
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] Normal nucleated cells incorporate tritiated purine bases into nucleic acids, permitting autoradiographic demonstration of the presence of HGPRT activity7. Erythrocytes also contain considerable amounts of HGPRT and, although they are capable of accumulating significant quantities of labelled ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/264172a0
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  • 2
    Electronic Resource
    Electronic Resource
    ANTIBODIES TO TYPE 1 AND TYPE 2 HERPES VIRUS IN WOMEN WITH ABNORMAL CERVICAL CYTOLOGY (1971)
    Oxford, UK : Blackwell Publishing Ltd
    BJOG 78 (1971), S. 0 
    Details
    ISSN: 1471-0528
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: The sera of 335 women with normal and abnormal cervical cytology have been tested for neutralizing antibodies to type 1 and type 2 herpes virus. There were no significant differences between the mean k-values of any of the groups of patients against type 1 herpes virus. With type 2 virus, patients with histological evidence of cervical disease had significantly higher mean k-values than both the control gynaecological group and the control group of patients with genital carcinoma of other sites. This difference was independent of age and socio-economic class. For patients with carcinoma in situ some preliminary evidence is presented suggesting that surgical conization of cervix results in a decline in type 2 herpes virus neutralizing antibody activity.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1471-0528.1971.tb00221.x
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  • 3
    Electronic Resource
    Electronic Resource
    Purine synthesis de novo in cultured lymphoblast cells derived from patients with gout (1987)
    Springer
    Rheumatology international 7 (1987), S. 1-6 
    Details
    ISSN: 1437-160X
    Keywords: Gout ; Cultured lymphoblasts ; Purine synthesis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Rates of de novo purine synthesis in lymphoblast cell cultures derived from ten patients with gout were compared with those from control individuals. Since the rate of de novo purine synthesis was dependent on the growth rate of the culture, an assay procedure was developed to account for the variation in lymphoblast growth rates and to permit valid quantitative comparison between purine synthesis in each cell line. Clear differences were demonstrated between the rates of purine synthesis in cells from normal control subjects and those from patients with a deficiency of hypoxanthine-guanine phosphoribosyltransferase activity (HPRT-deficient). Lymphoblasts from the gouty patients showed purine synthesis either within the normal range or intermediate between this and the HPRT-deficient cells. In patients having normal renal function, de novo purine synthesis of lymphoblast cells correlated with the degree of urate production as reflected by the urinary excretion of urate over a 24 h period. Three patients, with demonstrable excessive production of urate in vivo, exhibited increased purine synthesis in lymphoblasts. This increased synthesis did not appear to result from any of the enzyme mutations currently recognized as responsible for abnormal purine metabolism.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00267335
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  • 4
    Electronic Resource
    Electronic Resource
    Adenine phosphoribosyltransferase: A simple spectrophotometric assay and the incidence of mutation in the normal population (1977)
    Springer
    Biochemical genetics 15 (1977), S. 265-272 
    Details
    ISSN: 1573-4927
    Keywords: adenine phosphoribosyltransferase mutation ; adenine phosphoribosyltransferase assay ; gout ; normal human population
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Chemistry and Pharmacology
    Notes: Abstract The significance of partial deficiency of erythrocyte adenine phosphoribosyltransferase (APRT), reported in a number of subjects with gout, has been investigated by studying its incidence in 700 normal blood donors. Three clearly deficient subjects were found, an incidence not significantly different from that in patients with abnormalities of urate metabolism. A new assay method for APRT is described in which an erythrocyte lysate is incubated with adenine and phosphoribosylpyrophosphate (PRPP) for a given time; both hemoglobin and adenine nucleotide (AMP) are then precipitated with lanthanum phosphate; the change in absorbance of adenine at 260 nm reflects the extent of its conversion to AMP by APRT.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00484458
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  • 5
    Electronic Resource
    Electronic Resource
    Identification of a single nucleotide substitution in the coding sequence ofin vitro amplified cDNA from a patient with partial HPRT deficiency (HPRTBrisbane) (1990)
    Springer
    Journal of inherited metabolic disease 13 (1990), S. 692-700 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The change in genomic DNA responsible for HPRT deficiency has been determined in a patient with urate overproduction and gout. In erythrocyte cell lysates, this patient had approximately 10% of normal HPRT enzyme activity and 26% of immunoidentical HPRT protein. Cultured lymphoblasts derived from this patient were used to extract mRNA. This was reverse transcribed to cDNA, which was then amplified using the polymerase chain reaction. The resulting DNA was cloned and the nucleotide sequence determined. In addition a portion of the sequence was derived from cloned double-stranded cDNA prepared by conventional first and second strand synthesis. A single nucleotide base change (a C → T transition) was detected, which predicts an amino acid substitution of isoleucine for threonine at amino acid 168 of the HPRT protein. The nucleotide substitution creates aBamHI site, confirming a restriction fragment length polymorphism previously reported in this patient.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01799570
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  • 6
    Electronic Resource
    Electronic Resource
    HPRT-Deficiency associated with normal PRPP concentration and APRT activity (1987)
    Springer
    Journal of inherited metabolic disease 10 (1987), S. 82-88 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Deficiencies of HPRT are usually associated with increased concentrations of PRPP and increased levels of APRT activity in erythrocytes. We report the case of a male with a partial deficiency of HPRT in whom these two parameters were normal. The clinical features of this patient were those associated with severe hyperuricaemia and gout. Studies of intact erythrocytes showed rates of incorporation of [14C]hypoxanthine and of [14C]adenine into purine nucleotides which were almost indistinguishable from normal. However, HPRT activity in erythrocyte lysates was only 9% of normal. In cell extracts of cultured lymphoblasts, the HPRT activity was 20% of control values and the APRT activity was normal. The PRPP concentration and the rate ofde novo purine synthesis in cultured lymphoblasts were both intermediate between controls and lymphoblasts from patients with the Lesch-Nyhan syndrome.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01799493
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  • 7
    Electronic Resource
    Electronic Resource
    Biochemical basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in nine families (1988)
    Springer
    Journal of inherited metabolic disease 11 (1988), S. 229-238 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The concentration of hypoxanthine-guanine phosphoribosyltransferase (HPRT) cross-reacting material (CRM) was determined in haemolysates and/or lymphoblast lysates from nine patients with complete or partial deficiency of HPRT activity. Two of the patients had the fully developed Lesch-Nyhan syndrome and although they had undetectable HPRT activity, small amounts of CRM were found. HPRT-specific mRNA was not detected in lymphoblast lysates from one of these patients, while lysates from the other had a much reduced concentration. Samples from three patients with 〈0.1% of normal HPRT activity but with minor or no neurological manifestations were also found to contain small amounts of CRM. The other four patients whose HPRT activities ranged from 3 to 10% of normal were found to have CRM concentrations which varied from 26 to 100% of normal. In one patient with a partial deficiency theK m for 5-phospho-α-d-ribosyl-1-pyrophosphate was five times normal.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01800364
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