نتایج جستجو برای: trinucleotide expansion
تعداد نتایج: 142243 فیلتر نتایج به سال:
Tandem repeats, that is simple sequence repeats, occur commonly in the human genome, and they have long been used as markers in linkage studies. In this decade, it has also been found that tandem repeats underlie an entirely new class of human mutations. The expansion of a group of trinucleotide repeats is now known to cause several inherited diseases, all of which are neurological disorders. T...
Huntington disease (HD) is a neurodegenerative disorder associated with an expanded CAG trinucleotide repeat length in the huntingtin gene. 'Intermediate alleles' with 27 to 35 CAG repeats generally do not cause HD but are unstable upon germ-line transmission. Insights in CAG repeat mosaicism and enhanced trinucleotide expansion in postmitotic neurons indicate that in the intermediate range, ot...
Friedreich ataxia is a neurodegenerative disorder caused by the expansion of a GAA trinucleotide repeat sequence within the first intron of the FXN gene. Interruptions in the GAA repeat may serve to alleviate the inhibitory effects of the GAA expansion on FXN gene expression and to decrease pathogenicity. We have developed a simple and rapid PCR- and restriction enzyme-based assay to assess the...
Background Androgen receptor (AR) mediates androgen actions such as initiation and promotion of spermatogenesis and growth of accessory sex organs. There are two trinucleotide polymorphisms (CAG and GGN repeats) in exon1 of AR gene that are vary in length in population. The CAG and GGN repeats association with infertility is still unknown and this study is planned to assess the distribution of ...
OBJECTIVE Huntington's disease (HD) has been reported to occur rarely in black patients. A new genetic variant- Huntington's disease-like 2 (HDL2)--occurring more frequently in blacks, has recently been described. The absence of an expanded trinucleotide repeat at the chromosome 4 HD locus was previously regarded as a way of excluding classic HD. The objective of this paper is to describe a num...
Objective: To report a successful case of preimplantation genetic diagnosis (PGD) for Huntington’s disease using whole genome amplification Design: Case report Setting: University assisted reproduction unit Patient(s): A couple with family history of Huntington’s disease; the husband was carrying the expanded allele of the IT15 gene, while the wife had the normal allele. Intervention(s): PGD wi...
OBJECTIVE To report a successful case of preimplantation genetic diagnosis (PGD) for Huntington disease using whole genome amplification. DESIGN Case report. SETTING University assisted reproduction unit. PATIENT(S) A couple with family history of Huntington disease: The husband was carrying the expanded allele of the IT15 gene, and the wife had the normal allele. INTERVENTION(S) Preimp...
The two most consistent features of the diseases caused by trinucleotide repeat expansion-neuropsychiatric symptoms and the phenomenon of genetic anticipation-may be present in forms of dementia, hereditary ataxia, Parkinsonism, bipolar affective disorder, schizophrenia and autism. To identify candidate genes for these disorders, we have screened human brain cDNA libraries for the presence of g...
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