Abstract
Human adenine phosphoribosyltransferase (APRT) deficiency is a relatively common genetic disorder caused by a defective APRT gene, resulting in 2,8-dihydroxyadenine urolithiasis. The kinetic properties of APRT from APRT-deficient Japanese subjects showed similar abnormalities suggesting a distinct “Japanese-type” mutation. Nucleotide sequence analysis of APRT genomic DNA from WR2, a Japanese-type homozygote, identified a T to C substitution in exon 5 on both alleles (Met136→Thr). RNaae mapping analysis revealed that six other Japanese-type homozygotes carried the same mutation on at least one allele. After amplifying the region of the APRT genomic DNA that contains the Japanese-type mutation by the polymerase chain reaction (PCR), dot-blot analysis was performed using normal and mutated allele specific oligonucleotide (ASO) probes. This method demonstrated that all seven Japanese-type homozygotes carried the same mutation on both alleles. The dot-blots clearly distinguish normal, Japanese-type heterozygotes and Japanese-type homozygotes. PCR of genomic sequences and ASO hybridization is a useful tool for detection of common mutations in defined populations, such as “Japanese-type” APRT deficiency.
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Hidaka, Y., Tarle, S., Kamatani, N. et al. 55 HUMAN ADENINE PHOSPHORIBOSYLTRANSFERASE (APRT) DEFICIENCY: A SINGLE MUTANT ALLELE COMMON TO THE JAPANESE. Pediatr Res 24, 120 (1988). https://doi.org/10.1203/00006450-198807000-00079
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DOI: https://doi.org/10.1203/00006450-198807000-00079