title: Prenatal diagnosis of xeroderma pigmentosum group A in Japan.
abstract: We performed a prenatal diagnosis for 10 fetuses from nine unrelated Japanese xeroderma pigmentosum complementation group A (XP-A) families. All parents had at least one XP-A child (proband) with a homozygous founder mutation (IVS3-1G>C) in the XPA gene. A genetic analysis was performed by a restriction enzyme; AlwNI fragment length polymorphism of polymerase chain reaction (PCR)-amplified DNA, mostly from amniotic fluid (AF) and cultured cells established from AF. However, for the first family, we tried amniocentesis as well as chorionic villus sampling (CVS). Among the 10 cases, we confirmed the results of PCR-based genetic diagnosis by post-ultraviolet survival of amniotic cells in eight cases. Unfortunately, 6 weeks after CVS and 4 days after the amniocentesis in the first case we examined, the fetus died in utero, the reason for which remains unexplained. We prenatally determined two XP-A cases, six XP-A carriers and two wild-type fetuses, which appears to be consistent with Mendel's law.
authors.affiliation: Department of Dermatology, Osaka Medical College, Takatsuki, Osaka, Japan. der002@poh.osaka-med.ac.jp
authors.forename: Shinichi
authors.initials: S
authors.lastname: Moriwaki
authors.forename: Yoshiki
authors.initials: Y
authors.lastname: Yamashita
authors.forename: Sachiko
authors.initials: S
authors.lastname: Nakamura
authors.forename: Daisuke
authors.initials: D
authors.lastname: Fujita
authors.forename: Jun
authors.initials: J
authors.lastname: Kohyama
authors.forename: Masahiro
authors.initials: M
authors.lastname: Takigawa
authors.forename: Masahide
authors.initials: M
authors.lastname: Ohmichi
mesh_terms: D000328:Adult; D000649:Amniocentesis / Q000009:adverse effects; D002470:Cell Survival / Q000528:radiation effects; D015193:Chorionic Villi Sampling / Q000009:adverse effects; D005260:Female; D005313:Fetal Death / Q000209:etiology; D018703:Founder Effect; D006580:Genetic Carrier Screening; D006720:Homozygote; D006801:Humans; D007564:Japan; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000009:adverse effects / Q000379:methods*; D035781:Siblings; D014983:Xeroderma Pigmentosum / Q000175:diagnosis* / Q000235:genetics*; D051760:Xeroderma Pigmentosum Group A Protein / Q000235:genetics
chemical_list: D051760:Xeroderma Pigmentosum Group A Protein