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Chromosomal fragility and human genetic disorders

  • Genetic Disorders
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Abstract

The first report of X-linked mental retardation correlated with the presence of marker chromosome came in 1940. It was in 1990 that the molecular basis of fragile X syndrome was deciphered. This elucidation marked the discovery of a novel process of mutation designated as dynamic mutations, resulting in the expansion of a triplet repeat sequence within the human genome. Subsequently several human genetic disorders involving triplet repeat expansion have been discovered. Almost all the disorders are known to affect the nervous system and/or the brain. This review presents an overview of fragile sites in the genome and the molecular genetics of fragile X syndrome.

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Author notes

  1. Sujatha Baskaran

    Present address: Dr. B.R. Ambedkar Centre for Biomedical Research, University of Delhi, 110007, Delhi

Authors and Affiliations

  1. Dr. B.R. Ambedkar Centre for Biomedical Research, University of Delhi, 110007, Delhi

    Vani Brahmachari (Prof.)

  2. Department of Molecular Reproduction, Development and Genetics, Indian Institute of Science, 560012, Bangalore, India

    Sujatha Baskaran & Vani Brahmachari (Prof.)

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  1. Sujatha Baskaran
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  2. Vani Brahmachari
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Correspondence to Vani Brahmachari.

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Baskaran, S., Brahmachari, V. Chromosomal fragility and human genetic disorders. Indian J Clin Biochem 15 (Suppl 1), 145–157 (2000). https://doi.org/10.1007/BF02867554

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