DNA Mutation Analysis
Based on the results of
the skin biopsy, genetic testing may be performed to confirm the specific gene
and DNA mutation(s) present.
Molecular genetic
studies (DNA analysis) are done after the sub-type of Epidermolysis Bullosa (EB) has been confirmed by
skin biopsy. Molecular studies are done to identify
the specific genetic mutation and to determine
the mode of inheritance (recessive vs. dominant). This information is
helpful for family planning and makes prenatal diagnosis of subsequent
pregnancies possible.
After immunoflurescent
microscopy DNA mutational analysis is the final step in elucidating the
underlying molecular defect, and in most cases, it reduces the number of genes
to be screened. DNA is extracted from blood of the patient and family members.
Initial mutation screening is performed by restriction fragment-length
polymorphism analysis, hotspot analysis, and finally, direct DNA sequencing.
But in a small number
of people, DNA mutation analysis is unable to identify the specific mutations
that are suspected to be present based on the results of the skin biopsy.
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