5 research outputs found
Molecular diagnostics in genodermatoses - simplified
The field of genetics in dermatology has progressed at an astonishing
rate. Most of the known single gene disorders have at least been mapped
to a particular chromosomal region and the causative genes have been
identified and studied in many of them. However, most research work in
genetics relating to genodermatoses has been confined to the western
population. Very few reports, if any, have been published from Indian
studies. A first step may be to develop a registry to link most of
these cases providing a full description of the clinical phenotype. We
would next need to attempt genetic analysis of these conditions thereby
detecting any novel mutations in known and unknown genes different from
the western population. This would help in designing indigenous assays
appropriate to the Indian population. The review describes various
techniques used in a molecular biology/ genetics laboratory with
special focus on polymerase chain reaction (PCR), gene sequencing,
genotyping and DNA micro arrays. Gene identification strategies have
also been described with appropriate examples in dermatology