DNA-based prenatal carrier detection for group A xeroderma pigmentosum in a chorionic villus sample.
DNA-based prenatal carrier detection of group A xeroderma pigmentosum (XP-A) is reported. Chorionic villus sampling was done at the tenth gestational week in a pregnant woman whose first child suffers from XP-A. Genomic DNAs from the villi, proband, and parents were PCR (polymerase chain reaction)-amplified using three sets of primers, because the PCR and a subsequent enzyme digestion with HphI, AlwNI, or MseI may detect the three most frequent mutations of the XP-A complementing gene (XPAC) in Japanese XP-A patients. The results showed that the proband is a homozygote and that the parents and fetus are heterozygotes for a base substitution at the 3' acceptor site of intron 3 of XPAC, indicating that the fetus is a healthy carrier of XP-A. This is the first case of prenatal carrier detection of the disorder.
Department of Human Genetics, Nagasaki University School of Medicine, Japan.
N
N
Matsumoto
N
N
Saito
N
N
Harada
K
K
Tanaka
N
N
Niikawa
D001483:Base Sequence; D015193:Chorionic Villi Sampling; D004247:DNA / Q000032:analysis* / Q000235:genetics; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D014983:Xeroderma Pigmentosum / Q000175:diagnosis* / Q000235:genetics
D004247:DNA