Basic Cytogenetics and Karyotyping: Initial Step for Identification of Genetic Disease
Downloads
Published
DOI:
https://doi.org/10.56450/JEFI.2024.v2i03.003Keywords:
Base Sequence, Pregnancy, Multiple, Cytogenetic Analysis, Communication, Education, MedicalIssue
Section
License
Copyright (c) 2024 Nikha Bhardwaj, Surajit Ghatak
This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.
Genetic disorders are conditions that arise from alterations in the DNA sequence, which can be inherited or occur spontaneously. These alterations may affect a single gene or multiple genes, and they can also be influenced by environmental factors. Knowledge about the importance of suitable cytogenetic tests, the challenges faced in cytogenetics, the importance of pre-investigation lab work, and post-lab communication are important for the establishment of any cytogenetic lab. Continuous medical education can help in upgrading the knowledge and skills of Medical Practitioners.Abstract
How to Cite
Author Biographies
Nikha Bhardwaj, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India
.
Surajit Ghatak, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India
.
Bickmore WA. Karyotype analysis and chromosome banding. e LS. 2001 May 30 Ozkan, Ekin, and Marcelo P. Lacerda. Genetics, cytogenetic testing and conventional karyotype. 2020 Tamura Y, Santo M, Araki Y, Matsubayashi H, Takaya Y, Kitaya K, Doshida M, Yamaguchi K, Mizuta S, Takahashi C, Kim N. Chromosomal copy number analysis of products of conception by conventional karyotyping and next‐generation sequencing. Reproductive Medicine and Biology. 2021;20(1):71-5. Bridge JA. Advantages and limitations of cytogenetic, molecular cytogenetic, and molecular diagnostic testing in mesenchymal neoplasms. J Orthop Sci. 2008;13(3):273-82. Barilà G, Bonaldi L, Grassi A, Martines A, Liço A, Macrì N, Nalio S, Pavan L, Berno T, Branca A, Calabretto G. Identification of the true hyperdiploid multiple myeloma subset by combining conventional karyotyping and FISH analysis. Blood cancer journal. 2020;10(2):18. Crabtree M, Cai J, Qing X. Conventional Karyotyping and Fluorescence In Situ Hybridization for Detection of Chromosomal Abnormalities in Multiple Myeloma. J Hematol. 2022;11(3):87-91. doi: 10.14740/jh1007. Epub 2022 Jun 27. Nikitina TV, Sazhenova EA, Tolmacheva EN, Sukhanova NN, Kashevarova AA, Skryabin NA, Vasilyev SA, Nemtseva TN, Yuriev SY, Lebedev IN. Comparative Cytogenetic Analysis of Spontaneous Abortions in Recurrent and Sporadic Pregnancy Losses. Biomed Hub. 2016;1(1):1-11 Dutta UR. The history of human cytogenetics in India—a review. Gene 2016;589(2):112–117. DOI: 10.1016/j.gene.2016.01.052. National Policy for Rare Diseases (NPRD 2021). https://main.mohfw.gov.in/ Kar A, P S, Dalal A. Rare genetic diseases in India: Steps toward a nationwide mission program. J Biosci. 2024; 49:34
References