A polymorphic DNA marker genetically linked to congenital malformations.
Unusual restriction fragments were detected by DNA blot hybridization with PCNA (DNA polymerase-delta auxiliary protein) probe in one of seven cases of congenital malformations. Chromosomal in situ hybridization localized PCNA gene to region q31-35 of human chromosome 2. To discover the locus more closely associated with congenital malformations, a cloned DNA segment which has been mapped to chromosomal region 2q33-36 was tested for restriction fragment length polymorphisms (RFLPs) in these patients. The 2q33-36 probe hybridized with 2.1-kb, 1.9-kb and 1.7-kb fragments in ten normal control samples. In seven cases of congenital malformations examined, however, the band of 2.1 kb is absent in six cases and the band of 1.7 kb in one case. These results indicate that the locus closely linked to congenital malformations is present in the proximity of PCNA locus.
Moriuchi
T
T
Department of Cell Biology, Tokai University School of Medicine, Isehara, Japan.
Awataguchi
S
S
Taniguchi
Y
Y
Iwasaki
K
K
Katabami
M
M
Naito
H
H
Kuzumaki
N
N
D002648:Child; D002675:Child, Preschool; D000013:Congenital Abnormalities / Q000235:genetics*; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D007223:Infant; D009687:Nuclear Proteins / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D018809:Proliferating Cell Nuclear Antigen
D005819:Genetic Markers; D009687:Nuclear Proteins; D018809:Proliferating Cell Nuclear Antigen