Chromosomal fragility and human genetic disorders

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, resultin...

Full description

Saved in:
Bibliographic Details
Published in:Indian journal of clinical biochemistry 2000-08, Vol.15 (Suppl 1), p.145-157
Main Authors: Baskaran, S, Brahmachari, V
Format: Article
Language:English
Subjects:
Fragile sites
Fragile X syndrome
Genetic Disorders
Genetics
Genomes
Intellectual disabilities
Mutation
Nervous system
Nucleotide sequence
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:0970-1915
0974-0422
DOI:10.1007/BF02867554