نتایج جستجو برای: polymorphic trinucleotide

تعداد نتایج: 27186  

Journal: :Theor. Comput. Sci. 2008
Christian J. Michel Giuseppe Pirillo Mario A. Pirillo

The comma-free codes and circular codes are two important classes of codes in code theory and in genetics. Fifty years ago before the discovery of the genetic code, a trinucleotide (triletter) comma-free code was proposed for associating the codons of genes with the amino acids of proteins. More recently, in the last ten years, trinucleotide circular codes have been identified statistically in ...

Journal: :Computational biology and chemistry 2007
Christian J. Michel

We develop here an analytical evolution model based on a trinucleotide mutation matrix 64x64 with nine substitution parameters associated with the three types of substitutions in the three trinucleotide sites and with non-zero elements on its main diagonal. It generalizes the previous models based on the nucleotide mutation matrices 4x4 and the trinucleotide mutation matrices 64x64 with zero el...

Journal: :Journal of forensic sciences 2006
Julio J Mulero Chien Wei Chang Lori K Hennessy

Stutter products generated during DNA amplification by the polymerase chain reaction (PCR) may complicate mixture interpretation. The PCR amplification of the DYS392 locus typically results in three distinct detectable PCR products: the true allele product (N), a stutter product three bases smaller (N-3), and a reproducible low-level product, three bases larger (N+3). Sequence analysis of the N...

Journal: :Journal of the American Academy of Child and Adolescent Psychiatry 1999
R L Margolis C A Ross

Trinucleotide, or triplet, repeats consist of 3 nucleotides consecutively repeated (e.g., CAG CAG CAG CAG) within a region of DNA. All possible combinations of nucleotides are known to exist as triplet repeats, although some are more common than others. These repeated sequences are found both within gene boundaries and in the large stretches of DNA that lie benveen genes. If the triplet repeats...

Journal: :Human molecular genetics 1997
C E Pearson A Ewel S Acharya R A Fishel R R Sinden

The expansion of trinucleotide repeat sequences is associated with several neurodegenerative diseases. The mechanism of this expansion is unknown but may involve slipped-strand structures where adjacent rather than perfect complementary sequences of a trinucleotide repeat become paired. Here, we have studied the interaction of the human mismatch repair protein MSH2 with slipped-strand structure...

Journal: :Archives of ophthalmology 2000
T Abe T Tsuda M Yoshida Y Wada T Kano Y Itoyama M Tamai

OBJECTIVE To evaluate the macular function of Japanese patients with a trinucleotide repeat expansion in the spinocerebellar ataxia type 7 (SCA7) gene. METHODS Ophthalmic findings in patients whose DNA analysis revealed expanded alleles of the trinucleotide repeat in the SCA7 gene were evaluated. RESULTS Trinucleotide repeat was expanded from 40 to 48 in affected patients (control subjects,...

Journal: :Indian Journal of Clinical Biochemistry 2000

Journal: :Brain : a journal of neurology 2004
Caroline J Moore Eileen M Daly Flora Tassone Carolyn Tysoe Nicole Schmitz Virginia Ng Xavier Chitnis Philip McGuire John Suckling Kay E Davies Randi J Hagerman Paul J Hagerman Kieran C Murphy Declan G M Murphy

Expanded trinucleotide repeats are associated with several neuropsychiatric disorders, including fragile X syndrome (FraX) which is the most common inherited form of mental retardation. It is currently thought that FraX results from having >200 CGG trinucleotide repeats, with consequent methylation of the fragile X mental retardation gene (FMR1) and loss of FMR1 protein (FMRP). Pre-mutation car...

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