Fraxa
Mostrando 1-12 de 21 artigos, teses e dissertações.
-
1. Aproximação molecular da região cromossômica frágil Xq31-34 em bovinos (Bos taurus) utilizando microdissecação cromossômica e DOP-PCR
Os sítios frágeis (FS) são regiões de cromossomo onde a compactação normal da cromatina não é realizada. O FRAXA (Fra Xq27.3, cromossomo sexual X) é um dos FS mais estudados em seres humanos. O FRAXA apresenta expansão do trinucleotídeo CGG localizado no gene FMR-1. Em bovinos, existem estudos informando sobre fragilidade cromossômica em BTAX ass
Arquivo Brasileiro de Medicina Veterinária e Zootecnia. Publicado em: 2008-08
-
2. Diagnóstico laboratorial da síndrome do cromossomo X frágil: experiência em uma amostra de indivíduos com distúrbios invasivos do desenvolvimento
A síndrome do cromossomo X frágil (SXF) é uma doença genética freqüente associada a distúrbios do desenvolvimento neurológico, incluindo dificuldades de aprendizagem, retardo mental, problemas comportamentais e distúrbios invasivos do desenvolvimento (autismo e correlatos). Estudamos uma amostra de 82 indivíduos (69 homens e 13 mulheres) apresentan
Arquivos de Neuro-Psiquiatria. Publicado em: 2005-09
-
3. Estudo da mutação fraxa em individuos do sexo masculino com deficiencia mental de etiologia não esclarecida
mong the mental deficiencies of genetic origin the group of X-linked mental retardation (XLMR) has got special attention. lnside this group 25 to 40% corresponds to cases of ftagile X syndrome (FXS). This designation is related to the presence of a ftagile site in the Xq27.3 region, genotypically represented by FRAXA, that is caused by thevariation in the nu
Publicado em: 2004
-
4. Transtornos globais do desenvolvimento : caracterização genetico-clinica e neurologica de uma amostra de individuos da região de Campinas, SP
Introdução: Os transtornos globais do desenvolvimento formam um grupo heterogêneo de distúrbios da infância e compreendem o autismo, o autismo atípico, a síndrorne de Asperger, a síndrome de Rett e o transtorno global do desenvolvimento não especificado de outra maneira. Considerando a heterogeneidade clínica desses distúrbios, os diferentes instr
Publicado em: 2002
-
5. Studies of FRAXA and FRAXE in women with premature ovarian failure.
Recent reports suggest that women with FRAXA premutations have an increased likelihood of having premature ovarian failure (POF). We screened 147 women with idiopathic POF for the number of trinucleotide repeats at the FRAXA and FRAXE loci. We found six women with FRAXA premutations, including four familial and two sporadic cases, but no women with FRAXA ful
-
6. FRAXA and FRAXE: Evidence against segregation distortion and for an effect of intermediate alleles on learning disability
There have been several claims of segregation distortion (meiotic drive) for loci associated with diseases caused by trinucleotide repeats, leading us to test for this phenomenon in a large study of the X-linked loci FRAXA and FRAXE. We found no evidence of meiotic drive in females and no convincing evidence in males, where the limitation of risk to daughter
The National Academy of Sciences.
-
7. Linkage analysis using multiple Xq DNA polymorphisms in normal families, families with the fragile X syndrome, and other families with X linked conditions.
Multipoint linkage analysis was undertaken with eight Xq cloned DNA sequences which identify one or more restriction fragment length polymorphisms in 26 families. These families comprise seven phase known normal families with three or more males in the third generation, seven families segregating for haemophilia B, one large family with dyskeratosis congenit
-
8. Methylation mosaicism of 5′-(CGG)n-3′ repeats in fragile X, premutation and normal individuals
Fragile X syndrome (FRAXA) is characterized at the molecular level by an expansion of a naturally occurring 5′-(CGG)n-3′ repeat in the promoter and 5′-untranslated region (5′-UTR) of the fragile X mental retardation (FMR1) gene on human chromosome Xq27.3. When expanded, this region is usually hypermethylated. Inactivation of the FMR1 promoter and abs
Oxford University Press.
-
9. FRAXE and mental retardation.
Mental impairment and instability of the CCG repeat at FRAXE is described in six kindreds. Cosegregation of FRAXA and FRAXE was found within one of these kindreds. Cytogenetic expression of FRAXE was shown to skip a generation when associated with a reduction in size of the CCG expansion when transmitted through a male; however, in general, transmission occu
-
10. Clinical, cytogenetic, and molecular analysis of three families with FRAXE.
The probe StB12.3 has been used to screen the FMR-1 gene in 42 pedigrees with a distal Xq fragile site for expansion of the CCG repeat and aberrant methylation of the FRAXA locus. Four families did not have a FRAXA mutation and were investigated further. Fluorescent in situ hybridisation (FISH) and molecular analyses showed that three of these families had a
-
11. A rapid, non-radioactive screening test for fragile X mutations at the FRAXA and FRAXE loci.
Screening of referrals for the mutations associated with the fragile X syndrome constitutes a significant workload in many genetics laboratories. Since the great majority of these referrals will be negative, there is a need for a rapid and inexpensive screening test. We have developed an assay which allows simultaneous amplification of the triplet repeat seq
-
12. Instability of the CGG repeat at the FRAXA locus and variable phenotypic expression in a large fragile X pedigree.
Fragile X syndrome is the major cause of inherited mental retardation. The molecular basis for the expression of the fragile X phenotype is the expansion of an unstable CGG repeat element which inhibits transcription of the FMR1 gene. The fragile X syndrome shows great diversity in its phenotype as well as in its cytogenetic and molecular status. We have stu