抄録
Unusual restriction fragment was detected by DNA blot hybridization with PCNA (DNA polymerase-delta auxiliary protein) probe in a case of congenital malformation. Chromosomal in situ hybridization indicated the location of PCNA gene to the region of human chromosome 2q31-35. To discover the locus more closely associated with congenital malformation, a cloned DNA segment which has been mapped to chromosomal region 2q33-36 was tested for restriction fragment length polymorphisms (RFLPs). The 2q33-36 probe showed 2.1Kb, 1.9Kb and 1.7Kb fragments in five normal control samples. In seven cases of congenital malformations examined, however, the band of 2.1Kb was absent in six cases and the band of 1.7Kb in one case. The causes of these congenital malformations have not been explained clearly yet. These results indicate the relationship between congenital malformations and proximity of PCNA locus.
