Cag Repeats
Mostrando 1-12 de 110 artigos, teses e dissertações.
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1. Phylogenetic analysis, based on EPIYA repeats in the cagA gene of Indian Helicobacter pylori, and the implications of sequence variation in tyrosine phosphorylation motifs on determining the clinical outcome
The population of India harbors one of the world's most highly diverse gene pools, owing to the influx of successive waves of immigrants over regular periods in time. Several phylogenetic studies involving mitochondrial DNA and Y chromosomal variation have demonstrated Europeans to have been the first settlers in India. Nevertheless, certain controversy exis
Genetics and Molecular Biology. Publicado em: 25/03/2011
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2. Tremor in X-linked recessive spinal and bulbar muscular atrophy (Kennedy's disease)
OBJECTIVE: To study tremor in patients with X-linked recessive spinobulbar muscular atrophy or Kennedy's disease. METHODS: Ten patients (from 7 families) with a genetic diagnosis of Kennedy's disease were screened for the presence of tremor using a standardized clinical protocol and followed up at a neurology outpatient clinic. All index patients were genoty
Clinics. Publicado em: 2011
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3. Huntington disease : Dna analysis in brazilian population / Doença de Huntington: análise de DNA na população brasileira
A doença de Huntington (DH) está associada a expansões da seqüência repetitiva de trinucleotídeos CAG no gene HD. Através de análise do número de repetições CAG em indivíduos brasileiros, amostras de 92 indivíduos-controle não afetados pela DH, 44 pacientes com DH e 40 indivíduos de 6 famílias com a DH, demonstrou-se a presença de repetiçõ
Publicado em: 2010
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4. Cryptic mosaicism involving a second chromosome X in patients with Turner syndrome
The high abortion rate of 45,X embryos indicates that patients with Turner syndrome and 45,X karyotype could be mosaics, in at least one phase of embryo development or cellular lineage, due to the need for the other sex chromosome presence for conceptus to be compatible with life. In cases of structural chromosomal aberrations or hidden mosaicism, convention
Brazilian Journal of Medical and Biological Research. Publicado em: 2008-05
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5. Application of a double-enrichment procedure for microsatellite isolation and the use of tailed primers for high throughput genotyping
The number of microsatellite loci and their allelic diversity contribute to increase accuracy and informativity of genetic estimates, however, the isolation of microsatellite loci is not only laborious but also quite expensive. We used (GATA)n and (GACA)n tetranucleotide probes and single- and double-enrichment hybridization to construct and screen a genomic
Genetics and Molecular Biology. Publicado em: 2007-03
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6. The CAG repeat within the androgen receptor gene and its relationship to cryptorchidism
PURPOSE: We examined the significance of the CAG repeat polymorphism in the pathogenesis of cryptorchidism. MATERIALS AND METHODS: Genomic deoxyribonucleic acid (DNA) was extracted from blood samples from 42 cryptorchid boys and from 31 non-cryptorchid control subjects. In the cryptorchid group, 7 had bilateral cryptorchidism and 6 had patent processus vagin
International braz j urol. Publicado em: 2006-06
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7. The SCA1 (Spinocerebellar ataxia type 1) and MJD (Machado-Joseph disease) CAG repeats in normal individuals: segregation analysis and allele frequencies
Spinocerebellar ataxia type 1 (SCA1) and Machado-Joseph disease (MJD/SCA3) are autosomal dominant neurodegenerative diseases caused by expansions of a CAG trinucleotide repeat in the SCA1 and MJD genes. These expanded sequences are unstable upon transmission, leading to an intergeneration increase in the number of repeats (dynamic mutation). The transmission
Genetics and Molecular Biology. Publicado em: 2003
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8. Allelic frequencies of six polymorphic markers for risk of prostate cancer
The aim of the present study was to evaluate the distribution of polymorphisms for the androgen receptor (AR) (CAG, StuI, GGN), SRD5A2 (Ala49Thr, Val89Leu) and CYP17 (MspA1) genes that are considered to be relevant for risk of prostate cancer. We studied 200 individuals from two cities in the State of São Paulo, by PCR, PCR-RFLP and ASOH techniques. The all
Brazilian Journal of Medical and Biological Research. Publicado em: 2002-02
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9. Distribuição dos polimorfismos dos genes do receptor de androgenos e da 5-alfa Redutase tipo II relacionados ao cancer de prostata em uma amostra da população masculina do estado de São Paulo
There is evidence to support the hypothesis of hormonal etiology of prostate cancer involving androgen action. Testosterone is synthesized from cholesterol by a series of reactions involving cytochrome P450 enzymes and is converted to dihydrotestosterone (DHT), a more potent androgen, by 5a-reductase type 2 (SRD5A2) in many androgen-dependent target tissues.
Publicado em: 2001
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10. Counting CAG repeats in the Huntington’s disease gene by restriction endonuclease EcoP15I cleavage
Huntington’s disease (HD) is a progressive neurodegenerative disorder with autosomal-dominant inheritance. The disease is caused by a CAG trinucleotide repeat expansion located in the first exon of the HD gene. The CAG repeat is highly polymorphic and varies from 6 to 37 repeats on chromosomes of unaffected individuals and from more than 30 to 180 repeats
Oxford University Press.
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11. Transcription and nuclear transport of CAG/CTG trinucleotide repeats in yeast
Trinucleotide repeats are involved in several neurological disorders in humans. DNA sequences containing CAG/CTG repeats are prone to slippage during replication and double-strand break repair. The effects of trinucleotide repeats on transcription and on nuclear export were analyzed in vivo in yeast. Transcription of a CAG/CTG trinucleotide repeat in the 3�
Oxford University Press.
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12. Stability of intrastrand hairpin structures formed by the CAG/CTG class of DNA triplet repeats associated with neurological diseases.
Expansions of trinucleotide repeats in DNA, a novel source of mutations associated with human disease, may arise by DNA replication slippage initiated by hairpin folding of primer or template strands containing such repeats. To evaluate the stability of single-strand folding by repeating triplets of DNA bases, thermal melting profiles of (CAG)10, (CTG)10, (G