Molecular diagnostics in genodermatoses - simplified
| Autor: | Nagendrachary Nizamabad, Vijayaraghavan Kamasamudram, Ravi Hiremagalore |
|---|---|
| Rok vydání: | 2008 |
| Předmět: |
Genotyping
Population Dermatology Computational biology Skin Diseases Genetic analysis DNA sequencing law.invention law Genodermatoses Gene sequencing lcsh:Dermatology Humans Medicine Genetic Testing education Polymerase chain reaction education.field_of_study business.industry lcsh:RL1-803 Molecular diagnostics Infectious Diseases Chromosomal region Identification (biology) business Linkage analysis |
| Zdroj: | Indian Journal of Dermatology, Venereology and Leprology, Vol 74, Iss 1, Pp 8-14 (2008) |
| ISSN: | 0378-6323 |
| DOI: | 10.4103/0378-6323.38399 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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