title: [Prenatal diagnosis of recessive hereditary dystrophic epidermolysis bullosa with haplotype analysis of the type VII collagen gene].
abstract: DNA-based prenatal testing of the fetal genotype was performed in a family at risk for recurrence of recessive dystrophic epidermolysis bullosa (RDEB). DNA from cultured fibroblasts and leukocytes from the peripheral blood of the previously affected offspring, DNA from parental leukocytes and DNA from fetal tissue obtained by chorionic villus biopsy was analysed by direct PCR amplification of known polymorphic regions within or flanking the type VII collagen gene, the candidate gene in RDEB. One flanking marker (D3S2/Mspl) as well as two intragenic polymorphisms (C7/Mspl, C7/Eco01091) in exons 30 and 84 were informative in this family. Thus, based on the haplotype analysis and the lack of evidence for locus heterogeneity in RDEB, a phenotypically healthy child was predicted. This prediction was confirmed by the birth of a healthy female infant. The study reports successful determination of the fetal genotype by PCR-based prenatal diagnosis in a family at risk for recurrence of severe RDEB.
authors: Dermatologische Abteilung, Landeskrankenanstalten Salzburg.
authors: J W
authors: JW
authors: Bauer
authors: S
authors: S
authors: Ortiz
authors: M
authors: M
authors: Hengstschläger
authors: L
authors: L
authors: Pulkkinen
authors: J
authors: J
authors: Uitto
authors: H
authors: H
authors: Hintner
authors: K
authors: K
authors: Rappersberger
mesh_terms: D000328:Adult; D002675:Child, Preschool; D003094:Collagen / Q000235:genetics*; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006239:Haplotypes; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D008856:Microscopy, Fluorescence; D010375:Pedigree; D010641:Phenotype; D011296:Prenatal Diagnosis; D012307:Risk Factors; D012867:Skin / Q000473:pathology
chemical_list: D003094:Collagen