Linked Life Data

10097955

Source:http://linkedlifedata.com/resource/pubmed/id/10097955

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1999-7-16
pubmed:abstractText
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.
pubmed:language
ger
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
0017-8470
pubmed:author
pubmed:issnType
Print
pubmed:volume
50
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
121-6
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1999
pubmed:articleTitle
[Prenatal diagnosis of recessive hereditary dystrophic epidermolysis bullosa with haplotype analysis of the type VII collagen gene].
pubmed:affiliation
Dermatologische Abteilung, Landeskrankenanstalten Salzburg.
pubmed:publicationType
Journal Article, English Abstract, Case Reports