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A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in Herlitz junctional epidermolysis bullosa: prenatal exclusion in a fetus at risk.
- Source :
-
Genomics [Genomics] 1995 Sep 01; Vol. 29 (1), pp. 282-4. - Publication Year :
- 1995
-
Abstract
- Mutations in the three genes (LAMA3, LAMB3, and LAMC2) that encode the three chains (alpha 3, beta 3, and gamma 2, respectively) of laminin 5, a protein involved in epidermal-dermal adhesion, have been established as the genetic basis for the inherited blistering skin disorder, Herlitz junctional epidermolysis bullosa (H-JEB). In this study, we performed mutational analysis on genomic DNA from a child with H-JEB and identified a nonsense mutation in the alpha 3 chain gene (LAMA3) consisting of a homozygous C-to-T transition resulting in a premature termination codon (CGA-->TGA) on both alleles. The parents were shown to be heterozygous carriers of the same mutation. Direct mutation analysis was used to perform DNA-based prenatal diagnosis from a chorionic villus biopsy at 10 weeks' gestation in a subsequent pregnancy. The fetus was predicted to be genotypically normal with respect to the LAMA3 mutation.
- Subjects :
- Base Sequence
Child
Chorionic Villi Sampling
DNA Mutational Analysis
DNA Primers
Female
Homozygote
Humans
Macromolecular Substances
Male
Molecular Sequence Data
Pedigree
Polymerase Chain Reaction
Pregnancy
Prenatal Diagnosis
Kalinin
Cell Adhesion Molecules genetics
Epidermolysis Bullosa, Junctional genetics
Point Mutation
Subjects
Details
- Language :
- English
- ISSN :
- 0888-7543
- Volume :
- 29
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Genomics
- Publication Type :
- Academic Journal
- Accession number :
- 8530087
- Full Text :
- https://doi.org/10.1006/geno.1995.1246