Genetic Fingerprinting for Human Diseases: Applications and Implications

  • Inusha Panigrahi


DNA fingerprinting traditionally refers to the identification of individuals from blood and/or tissue samples for forensic purposes. But genetic fingerprinting can also include characterization of the genetic basis of human diseases, especially the inherited disorders. Some of the variants or haplotypes identified may run in families and thereby also have pathological or phenotypic connotations. The DNA sequencing technologies have evolved over the years, and nowadays, high-throughput techniques and applications are available with increased automation. Thus, genetic fingerprinting can have various connotations in relation to human diseases. The genetic testing done would depend on the clinical situation or phenotype, and what we are looking for in a specific patient or individual. Pretest and posttest counseling are important to facilitate decision-making.


Genetic fingerprinting Human diseases Inherited disorders Methylation Mutations Microarray NGS 



Thanks to all families whose clinical details have been discussed as cases in this write up. Appropriate consent was taken for publication as per ethical guidelines from parents/guardian. Also, thanks to the individuals/labs for the molecular testing in the patients.


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© Springer Nature Singapore Pte Ltd. 2018

Authors and Affiliations

  • Inusha Panigrahi
    • 1
  1. 1.Genetic and Metabolic Unit, Department of PediatricsAdvanced Pediatric Centre (APC), Post Graduate Institute of Medical Education and Research (PGIMER)ChandigarhIndia

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