DNS-alapú praenatalis diagnózis epidermolysis bullosában.

Translated title of the contribution: DNA-based prenatal diagnosis in epidermolysis bullosa

B. P. Cserhalmi-Friedman, S. Kárpáti, A. Horváth, T. Tóth, E. Tóth-Pál, M. A. Christiano

Research output: Contribution to journalArticle

Abstract

Authors report a prenatal diagnosis in a family of Herlitz junctional epidermolysis bullosa with risk of recurrence. The diagnosis in the family was established in the case of the affected older brother using electron microscopy and immunofluorescence microscopy. The underlying mutation was also detected in the gene LAMB3. The affected older brother was homozygous, the parents and one of the siblings proved to be heterozygous carriers for the mutation and the other sibling was genotypically normal. The chorionic villous sample biopsy was carried out in the 11, week of pregnancy in order to extract fetal desoxyribonucleic acid. The previously detected mutation generates new restriction enzyme site, which was tested after the polymerase chain reaction amplification of the exon. Desoxyribonucleic acid samples of the family members and an unaffected unrelated control person were used as controls. The fetus proved to be genotypically normal.

Original languageHungarian
Pages (from-to)71-73
Number of pages3
JournalOrvosi Hetilap
Volume139
Issue number2
Publication statusPublished - Jan 11 1998

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Epidermolysis Bullosa
Prenatal Diagnosis
Siblings
DNA
Mutation
Junctional Epidermolysis Bullosa
Acids
Fluorescence Microscopy
Exons
Electron Microscopy
Fetus
Parents
Biopsy
Recurrence
Pregnancy
Polymerase Chain Reaction
Enzymes
Genes

ASJC Scopus subject areas

  • Medicine(all)

Cite this

DNS-alapú praenatalis diagnózis epidermolysis bullosában. / Cserhalmi-Friedman, B. P.; Kárpáti, S.; Horváth, A.; Tóth, T.; Tóth-Pál, E.; Christiano, M. A.

In: Orvosi Hetilap, Vol. 139, No. 2, 11.01.1998, p. 71-73.

Research output: Contribution to journalArticle

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