Abstract
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.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Roewer L (2013) DNA fingerprinting in forensics: past, present, and future. Investig Genet 4:22. https://doi.org/10.1186/2041-2223-4-22
Mehrab-Mohseni M, Tabatabaei-Malazy O, Hasani-Ranjbar S, Amiri P, Kouroshnia A, Bazzaz JT, Farahani-Shrhabi M, Larijani B, Amoli MM (2011) Endothelial nitric oxide synthase VNTR (intron 4 a/b) polymorphism association with type 2 diabetes and its chronic complications. Diabetes Res Clin Pract 91(3):348–352
Dittwald P, Gambin T, Szafranski P, Li J, Amato S, Divon MY et al (2013) NAHR-mediated copy number variants in a clinical population: mechanistic insights into both genomic disorders and mendelizing traits. Genome Res 23(9):1395–1409
Goidts V, Armengol L, Schempp W, Conroy J, Nowak N, Müller S, Cooper DN, Estivill X, Enard W, Szamalek JM et al (2006) Identification of large scale human specific copy number differences by inter species array comparative genomic hybridization. Hum Genet 119(1–2):185–198
Butler MG (2009) Genomic imprinting disorders in humans. J Assist Reprod Genet 26:477–486
Poole RL, Docherty LE, Al Sayegh A, Caliebe A, Turner C, Baple E, Wakeling E, Harrison L, Lehmann A, Temple IK, Mackay DJ, International Clinical Imprinting Consortium (2013) Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders. Am J Med Genet A 161A(9):2174–2182
Mobasherizadeh S, Shojaei H, Havaei SA, Mostafavizadeh K, Davoodabadi F, Khorvash F, Ataei B, Daei-Naser A (2016) Application of the random amplified polymorphic DNA (RAPD) fingerprinting to analyze genetic variation in community associated-methicillin resistant staphylococcus aureus (CA-MRSA) Isolates in Iran. Glob J Health Sci 8(8):53822. https://doi.org/10.5539/gjhs.v8n8p185
Toval F, Guzmán-Marte A, Madriz V, Somogyi T, RodrÃguez C, GarcÃa F (2015) Predominance of carbapenem-resistant Pseudomonas aeruginosa isolates carrying blaIMP and blaVIM metallo-β-lactamases in a major hospital in Costa Rica. J Med Microbiol 64(Pt 1):37–43
Lixandru BE, Cotar AI, Straut M, Usein CR, Cristea D, Ciontea S et al (2015) Carbapenemase-producing Klebsiella pneumoniae in Romania: a Six-Month Survey. PLoS One 10(11):e0143214
Salimizand H, Menbari S, Ramazanzadeh R, Khonsha M, Saleh VM (2016) DNA fingerprinting and antimicrobial susceptibility pattern of clinical and environmental Acinetobacter baumannii isolates: a multicentre study. J Chemother 28(4):277–283
Sakthivel S, Zatkova A, Nemethova M, Surovy M, Kadasi L, Saravanan MP (2014) Mutation screening of HGD gene identified a novel alkaptonuria mutation with significant founder effect and high prevalence. Ann Hum Genet 78(3):155–164
Ankala A, Kohn JN, Dastur R, Gaitonde P, Khadilkar SV, Hegde MR (2013) Ancestral founder mutations in calpain-3 gene in the Indian Agarwal community: historical, clinical and molec ular perspective. Muscle Nerve 47(6):931–937
Bijarnia-Mahay S, Movva S, Gupta N, Sharma D, Puri RD, Kotecha U, Saxena R, Kabra M, Mohan N, Verma IC (2015) Molecular diagnosis of hereditary fructose intolerance: founder mutation in a community from India. JIMD Rep 19:85–93
Garewal G, Das R, Ahluwalia J, Marwaha RK, Varma S (2005) Nucleotide -88 (C-T) promoter mutation is a common beta-thalassemia mutation in Jat Sikhs of Punjab. India Am J Hematol 79(4):252–256
Panigrahi I, Kalra J, Goyad P, Khetarpal P, Munshi A (2016) Mutational analysis in Gaucher disease: implications in genetic counseling and management. J Genet Disor Genet Rep 5(2). https://doi.org/10.4172/2327-5790.1000132
Torres-Serrant M, Ramirez SI, Cadilla CL, Ramos-Valencia G, Santiago-Borrero PJ (2010) Newborn screening for Hermansky-Pudlak syndrome type 3 in Puerto Rico. J Pediatr Hematol Oncol 32:448–453
Panigrahi I, Suthar R, Rawat A, Behera B (2015) Seizure as the presenting manifestation in Griscelli syndrome type 2. Pediatr Neurol. 52(5):535–538
Van der Woerd WL, van Mil SW, Stapelbroek JM, Klomp LW, van der Graaf SF, Houwen RH (2010) Familial cholestasis: progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis and intrahepatic cholestasis of pregnancy. Best Pract Res Clin Gastroenterol 24(5):541–553
Tallila J, Jakkula E, Peltonen L, Salonen R, Kestilä M (2008) Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle. Am J Hum Genet 82:1361–1367
Young ID, Rickett AB, Clarke M (1985) High incidence of Meckel syndrome in Gujarati Indians. J Med Genet 22:301–304
Engels H, Wohlleber E, Zink A, Hoyer J, Ludwig KU, Brockschmidt FF et al (2009) A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients. Eur J Hum Genet 17(12):1592–1599
Acknowledgments
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.
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2018 Springer Nature Singapore Pte Ltd.
About this chapter
Cite this chapter
Panigrahi, I. (2018). Genetic Fingerprinting for Human Diseases: Applications and Implications. In: Dash, H., Shrivastava, P., Mohapatra, B., Das, S. (eds) DNA Fingerprinting: Advancements and Future Endeavors. Springer, Singapore. https://doi.org/10.1007/978-981-13-1583-1_8
Download citation
DOI: https://doi.org/10.1007/978-981-13-1583-1_8
Published:
Publisher Name: Springer, Singapore
Print ISBN: 978-981-13-1582-4
Online ISBN: 978-981-13-1583-1
eBook Packages: Biomedical and Life SciencesBiomedical and Life Sciences (R0)