A case of xeroderma pigmentosum group A diagnosed with a polymerase chain reaction (PCR) technique. Usefulness of PCR in the detection of point mutation in a patient with a hereditary disease

Prenatal diagnosis of xeroderma pigmentosum and cockayne syndrome

“…(1984). DNA repair deficiencies and cellu- (Kore-eda et al , 1992). But in diseases such as XP tations, such a development may take a consider-Cleaver, J.E., Kraemer, K.H.…”

“…Many of the genes have now been cloned, but the spectrum of human mutations in this population has been analysed only for XPAC and the very rare XPBC (Satokata et aL, 1990(Satokata et aL, , 1992Weeda et al, 1990). The evidence for XPAC indicates that, in homozygous populations such as that in Japan, there is a significant degree of parental consan-guinity and the number of specific mutations may be small enough to allow a DNA sequence-based diagnostic procedure to be devised (Kore-eda et al, 1992). In the United States, however, we have found that parental consanguinity is very low (J. E. Cleaver, W. C. Charles, and G. H. Thomas, unpublished observations), and we do not have broad-based knowledge of the distribution of genes and mutations in the population.…”

Ancient origin of a Japanese xeroderma pigmentosum founder mutation

“…XPA is located on chromosome 9q22.3 and codes for a 273 amino acid protein that is involved in nucleotide excision repair [8]. More than 90% of the mutant alleles in Japanese XP-A patients have the same G to C base change mutation [7–9]. This founder mutation at the 3′ splice acceptor site of intron 3 (IVS3-1G>C) results in no detectable protein production and markedly reduced DNA repair.…”

DNA-based prenatal diagnosis in a Chinese family with xeroderma pigmentosum group A

“…Since the gene responsible for XPA was identified by Tanaka et al 2 . more than 20 mutations have been reported 3–10 . In this study, we examined genomic DNA from a Chinese family with XPA to determine the XPAC gene mutation.…”