title: Molecular genetic analysis of trinucleotide repeat disorders (TRDs) in Indian population and application of repeat primed PCR.
abstract: Trinucleotide repeat disorders (TRDs) are a set of genetic disorders caused by trinucleotide repeat expansion in certain genes that exceed the normal, stable threshold, which varies from gene to gene. A dynamic mutation in a healthy gene may increase the repeat count and result in a defective gene. At present there are 14 pathogenic trinucleotide repeat disorders that are known to affect humans. The occurrence of these "triplet repeat diseases" within populations ranges from fairly common (Fragile X syndrome and Myotonic dystrophy type 1) to rare (Dentatorubral-pallidoluysian atrophy). In the present study we report a detailed scenario of TRDs in India mostly in respect to the 9 most common disorders namely; Fragile X syndrome, Myotonic dystrophy type 1, Spinocerebellar ataxia (type 1, 2, 3, 6 and 7), Friedreich Ataxia and Huntington Disease.
authors.affiliation: Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.
authors.forename: Aneek
authors.initials: A
authors.lastname: Das Bhowmik
authors.affiliation: Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.
authors.forename: Savithri
authors.initials: S
authors.lastname: Rangaswamaiah
authors.affiliation: Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.
authors.forename: G
authors.initials: G
authors.lastname: Srinivas
authors.affiliation: Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India. Electronic address: ashwindalal@gmail.com.
authors.forename: Ashwin B
authors.initials: AB
authors.lastname: Dalal
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D005260:Female; D005600:Fragile X Syndrome / Q000175:diagnosis / Q000235:genetics; D005621:Friedreich Ataxia / Q000175:diagnosis / Q000235:genetics; D030342:Genetic Diseases, Inborn / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D006816:Huntington Disease / Q000175:diagnosis / Q000235:genetics; D007194:India; D008297:Male; D008875:Middle Aged; D009223:Myotonic Dystrophy / Q000175:diagnosis / Q000235:genetics; D016133:Polymerase Chain Reaction / Q000379:methods*; D020754:Spinocerebellar Ataxias / Q000175:diagnosis / Q000235:genetics; D019680:Trinucleotide Repeat Expansion; D044465:White People / Q000235:genetics*; D055815:Young Adult
keywords: Fragile X syndrome; Friedreich Ataxia and Huntington Disease; Myotonic dystrophy type 1; Spinocerebellar ataxia; Trinucleotide repeat disorders