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Year : 2008  |  Volume : 74  |  Issue : 1  |  Page : 8--14

Molecular diagnostics in genodermatoses - simplified

1 Department of Dermatology and Immunology and Infectious Disease, Mediciti Institute of Medical Sciences, Andhra Prasesh, India
2 Director-Research, SHARE, Andhra Prasesh, India

Correspondence Address:
Ravi N Hiremagalore
Department of Dermatology, Mediciti Institute of Medical Sciences, Ghanpur, Medchal Mandal, R. R. District - 501 401, Andhra Pradesh
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0378-6323.38399

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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.


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Online since 15th March '04
Published by Wolters Kluwer - Medknow