Non-Mendelian inheritance
These diseases are all caused by the expansion of microsatellite tandem repeats consisting of a stretch of three nucleotides. ... This is because the maternal Igf2 gene is imprinted. Imprinting results in the inactivation of the Igf2 gene on the chromosome ... Prominent trinucleotide repeat disorders include Fragile X syndrome and Huntington's disease. In the case of Fragile X syndrome ... All female mammals have two X chromosomes. To prevent lethal gene dosage problems, one of these chromosomes is inactivated ...
Myotonic dystrophy
This expansion occurs in the first intron CNBP gene on chromosome 3. The repeat expansion for DM2 is much larger than for DM1, ... The microsatellite expansion responsible for DM1 is of cytosine-thymine-guanine (CTG) triplet repeats, termed trinucleotide ... as the degree of repeat expansion beyond 75 repeats does not affect the age of onset or disease severity. The repeat expansion ... repeat expansion and classifying DM1 as a one of several trinucleotide repeat disorders. This expansion occurs at the end of ...
Trinucleotide repeat disorder
... s, also known as microsatellite expansion diseases, are a set of over 50 genetic disorders caused ... which has since been mapped to the long arm of the X chromosome. Patients carry from 230 to 4000 CGG repeats in the gene that ... by trinucleotide repeat expansion, a kind of mutation in which repeats of three nucleotides (trinucleotide repeats) increase in ... has trinucleotide repeats that occur in the exons of the affected genes. Some of the problems in trinucleotide repeat syndromes ...
List of MeSH codes (G14)
... dna repeat expansion MeSH G14.340.024.189.220.865 - trinucleotide repeat expansion MeSH G14.340.024.189.610 - chromosome ... trinucleotide repeat expansion MeSH G14.080.708.800.150 - dna, satellite MeSH G14.080.708.800.500 - microsatellite repeats MeSH ... trinucleotide repeat expansion MeSH G14.340.024.850.550 - minisatellite repeats MeSH G14.340.050.500 - genes, archaeal MeSH ... trinucleotide repeat expansion MeSH G14.080.708.800.550 - minisatellite repeats MeSH G14.080.708.850 - terminal repeat ...
Repeated sequence (DNA)
Fragile X syndrome is caused by the expansion of the DNA sequence CCG in the FMR1 gene on the X chromosome. This gene produces ... disorder which is due to the expansion of repeated trinucleotide sequence CAG in exon 1 of the huntingtin gene (HTT). This gene ... the repeat is referred to as a short tandem repeat (STR) or microsatellite. When the repeating sequence is 10-60 nucleotides ... These trinucleotide repeat expansions may occur through strand slippage during DNA replication or during DNA repair synthesis. ...
Microsatellite
... do not influence gene regulation, and are not usually trinucleotide STRs which could be involved in triplet expansion diseases ... JSTRING-Java Search for Tandem Repeats In Genomes Microsatellite repeats finder MISA-MIcroSAtellite identification tool MREPATT ... microsatellites on the Y chromosome) are often used in genealogical DNA testing. During the 1990s and the first several years ... A repeat polymorphism in the fourth intron of the NOS3 gene is linked to hypertension in a Tunisian population. Reduced repeat ...
Copy number variation
"A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The ... For this particular case, once the CAG trinucleotide repeats more than 36 times in a trinucleotide repeat expansion, ... It was found that the AMY1 gene copy number range was larger than that of over 97% of the microsatellites examined. This ... two repeating nucleotides e.g. A-C-A-C-A-C...) and trinucleotide repeats. Long repeats include repeats of entire genes. This ...
Trinucleotide repeat expansion
"A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The ... 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 ...
Mild androgen insensitivity syndrome
"Linkage between male infertility and trinucleotide repeat expansion in the androgen-receptor gene". Lancet. 354 (9179): 640-3. ... The androgen receptor gene contains two polymorphic trinucleotide microsatellites in exon 1. The first microsatellite (nearest ... Stouffs K, Tournaye H, Liebaers I, Lissens W (2009). "Male infertility and the involvement of the X chromosome". Hum. Reprod. ... n trinucleotide repeat of the human androgen receptor gene". Hum. Genet. 101 (1): 43-6. doi:10.1007/s004390050583. PMID 9385367 ...
Frameshift mutation
These include the length of the microsatellite, the makeup of the genetic material and how pure the repeats are. Based on ... over 500 mutations on chromosome 17 that seem to play a role in the development of breast and ovarian cancer in the BRCA1 gene ... Baase, Walter A.; Davis Jose; Benjamin C. Ponedel; Peter H. von Hippel; Neil P. Johnson (2009). "DNA models of trinucleotide ... There may be a link between diseases caused by polyglutamine and polyalanine expansion mutations, as frame shifting of the ...
Androgen insensitivity syndrome
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) ... The human androgen receptor (AR) is a protein encoded by a gene located on the proximal long arm of the X chromosome (locus ... "Linkage between male infertility and trinucleotide repeat expansion in the androgen-receptor gene". Lancet. 354 (9179): 640-3. ...