... are a set of over 50 genetic disorders caused by trinucleotide repeat expansion, a kind of mutation in which repeats of three ... has trinucleotide repeats that occur in the exons of the affected genes. Some of the problems in trinucleotide repeat syndromes ... Trinucleotide repeats are a subset of a larger class of unstable microsatellite repeats that occur throughout all genomes. The ... Trinucleotide repeat disorders, also known as microsatellite expansion diseases, ...
These diseases are all caused by the expansion of microsatellite tandem repeats consisting of a stretch of three nucleotides. ... Prominent trinucleotide repeat disorders include Fragile X syndrome and Huntington's disease. In the case of Fragile X syndrome ... Germline mutations occur in the egg or sperm cells and can be passed on to offspring. Mutations that occur early on in ... Gene conversion can be one of the major forms of non-Mendelian inheritance. Gene conversion arises during DNA repair via DNA ...
The microsatellite expansion responsible for DM1 is of cytosine-thymine-guanine (CTG) triplet repeats, termed trinucleotide ... Mutation of the DMPK gene causes myotonic dystrophy type 1 (DM1). Mutation of CNBP gene causes type 2 (DM2). DM is typically ... This expansion occurs in the first intron CNBP gene on chromosome 3. The repeat expansion for DM2 is much larger than for DM1, ... as the degree of repeat expansion beyond 75 repeats does not affect the age of onset or disease severity. The repeat expansion ...
"Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: quantification of the mutation frequency ... Bovo, D.; Rugge, M.; Shiao, Y. H. (February 1999). "Origin of spurious multiple bands in the amplification of microsatellite ... A trinucleotide repeat expansion, also known as a triplet repeat expansion, is the DNA mutation responsible for causing any ... of trinucleotide repeat expansion transmission in many predicted models due to the difficulty of Trinucleotide Repeat Expansion ...
... microsatellites) are prone to strand slippage during DNA replication and DNA repair. Trinucleotide repeat expansion is a cause ... trinucleotide expansion in the SCA3 gene), myotonic dystrophy ( trinucleotide expansion in the DMPK gene), and Friedreich's ... Mutations followed by expansion would result in the formation of new types of adjacent short tandem repeat units. For example, ... trinucleotide expansion in the AR gene), dentatorubral-pallidoluysian atrophy ( trinucleotide expansion in the DRPLA gene), ...
"Somatic mutations at the trinucleotide repeats of androgen receptor gene in male hepatocellular carcinoma". Int. J. Cancer. 120 ... The androgen receptor gene contains two polymorphic trinucleotide microsatellites in exon 1. The first microsatellite (nearest ... "Linkage between male infertility and trinucleotide repeat expansion in the androgen-receptor gene". Lancet. 354 (9179): 640-3. ... is associated with a particular mutation of the androgen receptor's polyglutamine tract called a trinucleotide repeat expansion ...
... do not influence gene regulation, and are not usually trinucleotide STRs which could be involved in triplet expansion diseases ... Microsatellite mutation rates vary with base position relative to the microsatellite, repeat type, and base identity. Mutation ... The mutation rate at microsatellite loci depends on the repeat motif sequence, the number of repeated motif units and the ... JSTRING-Java Search for Tandem Repeats In Genomes Microsatellite repeats finder MISA-MIcroSAtellite identification tool MREPATT ...
... two repeating nucleotides e.g. A-C-A-C-A-C...) and trinucleotide repeats. Long repeats include repeats of entire genes. This ... For this particular case, once the CAG trinucleotide repeats more than 36 times in a trinucleotide repeat expansion, ... Mutations accumulate through time in the genes and with natural selection acting on the genes, some mutations lead to ... It was found that the AMY1 gene copy number range was larger than that of over 97% of the microsatellites examined. This ...
These include the length of the microsatellite, the makeup of the genetic material and how pure the repeats are. Based on ... and is caused by mutations in genes encoding proteins of the cardiac sarcomere. Mutations in the Troponin C gene (TNNC1) are a ... There may be a link between diseases caused by polyglutamine and polyalanine expansion mutations, as frame shifting of the ... Baase, Walter A.; Davis Jose; Benjamin C. Ponedel; Peter H. von Hippel; Neil P. Johnson (2009). "DNA models of trinucleotide ...
The trinucleotide repeat expansion of the polyglutamine tract of the AR gene that is associated with SBMA results in the ... The AR gene contains two polymorphic trinucleotide microsatellites in exon 1. The first microsatellite (nearest the 5' end) ... "Somatic mutations at the trinucleotide repeats of androgen receptor gene in male hepatocellular carcinoma". Int. J. Cancer. 120 ... "Linkage between male infertility and trinucleotide repeat expansion in the androgen-receptor gene". Lancet. 354 (9179): 640-3. ...