We report the results of a study carried out to delineate genetic and epidemiological aspects of homocystinuria in the Qatari population. Sixty-four patients with homocystinuria (37 males, 27 females, age 1 to 29 years) from 31 nuclear families were ascertained over a period of more than four years.
Adenine phosphoribosyltransferase: A simple spectrophotometric assay and the incidence of mutation in the normal population
β Scribed by L. A. Johnson; R. B. Gordon; B. T. Emmerson
- Publisher
- Springer
- Year
- 1977
- Tongue
- English
- Weight
- 350 KB
- Volume
- 15
- Category
- Article
- ISSN
- 0006-2928
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β¦ Synopsis
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.
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