Prenatal diagnosis of xeroderma pigmentosum and trichothiodystrophy in 76 pregnancies at risk.

Objective: Evaluation of results in a consecutive series of 76 prenatal diagnoses for xeroderma pigmentosum (XP) and trichothiodystrophy (TTD) made since 1977.

Methods: UV-induced DNA repair synthesis was assessed by the autoradiographic measurement of the incorporation of (3)H-thymidine.

Results: XP was diagnosed in 19 of the 76 investigated pregnancies at risk; cultured chorionic villus (CV) cells were used in 33 pregnancies with ten affected fetuses and cultured amniocytes in 43 pregnancies with nine affected fetuses.

Prenatal diagnosis of the Cockayne syndrome: survey of 15 years experience.

Objective: Evaluation of results in a consecutive series of 29 prenatal diagnoses for the Cockayne syndrome.

Methods: Recovery of DNA-synthesis in UV-irradiated cultured fetal cells was measured by scintillation counting of incorporated (3)H-thymidine. Semiquantitative autoradiographic assessment of the recovery of RNA-synthesis (RecRS) was used as an adjunctive method.

Prenatal diagnosis of citrullinemia and argininosuccinic aciduria: evidence for a transmission ratio distortion in citrullinemia.

Background: In the course of 25 years, we have experienced a high rate of affected fetuses in the prenatal diagnosis of citrullinemia.

Methods And Results: Ninety-one pregnancies at 1 in 4 risk were tested; 36 were diagnosed as affected (39.5%; P = 0.

Molecular analysis of mutations in DNA polymerase eta in xeroderma pigmentosum-variant patients.

Xeroderma pigmentosum variant (XP-V) cells are deficient in their ability to synthesize intact daughter DNA strands after UV irradiation. This deficiency results from mutations in the gene encoding DNA polymerase eta, which is required for effecting translesion synthesis (TLS) past UV photoproducts. We have developed a simple cellular procedure to identify XP-V cell strains, and have subsequently analyzed the mutations in 21 patients with XP-V.