| Title |
Crossovers within a short DNA sequence indicate a long evolutionary history of the APRT*J mutation
|
|---|---|
| Published in |
Human Genetics, October 1990
|
| DOI | 10.1007/bf00193582 |
| Pubmed ID | |
| Authors |
Naoyuki Kamatani, Shoko Kuroshima, Masayuki Hakoda, Thomas D. Palella, Yuji Hidaka |
| Abstract |
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. |
Mendeley readers
The data shown below were compiled from readership statistics for 4 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 4 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 2 | 50% |
| Other | 1 | 25% |
| Unknown | 1 | 25% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 2 | 50% |
| Medicine and Dentistry | 1 | 25% |
| Unknown | 1 | 25% |
Attention Score in Context
This research output has an Altmetric Attention Score of 3. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 31 May 2019.
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#7,453,350
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Outputs from Human Genetics
#933
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Outputs of similar age
#4,517
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Outputs of similar age from Human Genetics
#2
of 16 outputs
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