@article{oai:niigata-u.repo.nii.ac.jp:00021355,
 author = {里方, 一郎 and 田中, 亀代次},
 issue = {7},
 journal = {新潟医学会雑誌, 新潟医学会雑誌},
 month = {Jul},
 note = {The molecular basis of group A xeroderma pigmentosum (XP) was studied and 3 mutations of the XP group A complementing gene (XPAC) were identified. One was a G→C transversion at the 3’splice acceptor site of intron 3, which caused aberrant RNA splicing resulting in loss of enzyme activity of the XPAC protein. This transversion creates a new cleavage site for the restriction nuclease AlwN I. Analysis of AlwN I restriction fragment length polymorphism (RFLP) showed a high frequency of this mutation in Japanese patients with group A XP: 16 of 21 unrelated Japanese patients were homozygous and 4 were heterozygous for this mutation. The Second mutation was a nucleotide transition altering the Arg-228 codon (CGA) to a nonsense codon (TGA). Of 21 unrelated Japanese group A XP patient examined, one was a homozygote for this mutation and 3 were compound heterozygotes for this mutation and for the splicing mutation of intron 3. The third mutation was a nucleotide transversion altering the Tyr-116 codon (TAT) to a nonsense codon (TAA). Of the Japanese patients, 2 had this mutant allele. The latter two mutations create new cleavage sites for the restriction nucleases Hph I and Mse I, respectively. Our data indicate that almost all Japanese cases of group A XP are caused by one or more of these 3 mutations. Therefore, by RFLP analysis of PCR-amplified DNA sequences using the 3 restriction enzymes, described above, rapid and reliable diagnosis of group A XP can be achieved in almost all Japanese subjects including prenatal cases and carriers.},
 pages = {458--469},
 title = {5) 色素性乾皮症A群の分子遺伝学的解析(シンポジウム 免疫遺伝学の最近の話題, 第463回新潟医学会)},
 volume = {105},
 year = {1991}
}