caa a22 4500 467984867 CHVBK 20180323112528.0 cr unu---uuuuu 170328e19901001xx s 000 0 eng 10.1007/BF00193582 doi (NATIONALLICENCE)springer-10.1007/BF00193582 Crossovers within a short DNA sequence indicate a long evolutionary history of the APRT*J mutation [Elektronische Daten] [Naoyuki Kamatani, Shoko Kuroshima, Masayuki Hakoda, Thomas Palella, Yuji Hidaka] Summary: Adenine phosphoribosyltransferase (APRT) deficiency causing 2,8-dihydroxyadenine urolithiasis and renal failure is present at a high frequency among the Japanese but not other ethnic groups. A special type of mutant allele, designated APRT*J, with a nucleotide substitution at codon 136 from ATG (Met) to ACG (Thr) is carried by approximately 79% of all Japanese 2,8-dihydroxyadenine urolithiasis patients. We analyzed mutant alleles of 39 APRT deficient patients using a specific oligonucleotide hybridization method after in vitro amplification of a part of the genomic APRT sequence. We found that 24 had only APRT*J alleles. Determination of the haplotypes of 194 APRT alleles from control Japanese subjects and of the 48 different APRT*J alleles indicated that normal alleles occur in four major haplotypes, whereas all APRT*J alleles occur in only two. These results suggest that all APRT*J alleles have a single origin and that this mutant sequence has been maintained for a long period, as calculated from the frequency of the recombinant alleles. Springer-Verlag, 1990 Kamatani Naoyuki Institute of Rheumatology, Tokyo Women's Medical College, 2-4-1 Nishi-shinjuku, Shinjuku-ku, 163, Tokyo, Japan aut Kuroshima Shoko Institute of Rheumatology, Tokyo Women's Medical College, 2-4-1 Nishi-shinjuku, Shinjuku-ku, 163, Tokyo, Japan aut Hakoda Masayuki Institute of Rheumatology, Tokyo Women's Medical College, 2-4-1 Nishi-shinjuku, Shinjuku-ku, 163, Tokyo, Japan aut Palella Thomas Department of Internal Medicine, University of Michigan Medical Center, 48109, Ann Arbor, MI, USA aut Hidaka Yuji Department of Internal Medicine, University of Michigan Medical Center, 48109, Ann Arbor, MI, USA aut Human Genetics Springer-Verlag 85/6(1990-10-01), 600-604 0340-6717 85:6<600 1990 85 439 https://doi.org/10.1007/BF00193582 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00193582 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Kamatani Naoyuki Institute of Rheumatology, Tokyo Women's Medical College, 2-4-1 Nishi-shinjuku, Shinjuku-ku, 163, Tokyo, Japan aut NATIONALLICENCE 700 1- Kuroshima Shoko Institute of Rheumatology, Tokyo Women's Medical College, 2-4-1 Nishi-shinjuku, Shinjuku-ku, 163, Tokyo, Japan aut NATIONALLICENCE 700 1- Hakoda Masayuki Institute of Rheumatology, Tokyo Women's Medical College, 2-4-1 Nishi-shinjuku, Shinjuku-ku, 163, Tokyo, Japan aut NATIONALLICENCE 700 1- Palella Thomas Department of Internal Medicine, University of Michigan Medical Center, 48109, Ann Arbor, MI, USA aut NATIONALLICENCE 700 1- Hidaka Yuji Department of Internal Medicine, University of Michigan Medical Center, 48109, Ann Arbor, MI, USA aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 85/6(1990-10-01), 600-604 0340-6717 85:6<600 1990 85 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer