Routine autoradiographic analysis of DNA excision-repair. Report of prenatal and postnatal diagnosis in eleven families.
Ann Genet
; 34(2): 76-81, 1991.
Article
em En
| MEDLINE
| ID: mdl-1746887
ABSTRACT
DNA excision-repair of UV induced damages was investigated by unscheduled DNA synthesis and quantitative autoradiography. The method has been routinely used on lymphocytes for postnatal diagnosis of xeroderma pigmentosum and PIBIDS syndrome. Ten XP-families including 13 clinical XP patients and 9 XP-risk children, and one family with one clinical PIBIDS case and one PIBIDS-risk child were screened. Each of the 14 affected patients were biologically ascertained with a significant excision-repair defect. Among the 9 XP-risk children without clinical manifestations, the DNA excision-repair was defected in 4 cases considered as biological XP, and normal in 5 cases considered as biologically normal subjects. Likewise the PIBIDS-risk child exhibited a normal excision-repair. According to the age of the XP or PIBIDS-risk children, and the delay of appearance of clinical manifestations, the method should not present neither false positive nor false negative results and allows the infraclinical diagnosis. The protocol was extended for prenatal diagnosis on amniocytes and fetal cord blood. Excision-repair analysis on normal cultivated chorionic villi cells has been performed allowing a further first trimester prenatal diagnosis.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Diagnóstico Pré-Natal
/
Dermatopatias
/
DNA
/
Reparo do DNA
Tipo de estudo:
Diagnostic_studies
/
Etiology_studies
/
Guideline
/
Risk_factors_studies
Limite:
Humans
Idioma:
En
Revista:
Ann Genet
Ano de publicação:
1991
Tipo de documento:
Article
País de afiliação:
França