1,721,019 research outputs found
Il ruolo del laboratorio di biologia molecolare nel monitoraggio del trapianto di midollo
No full textdescrizione del ruolo del laboratorio di biologia molecolare nel monitoraggio del trapianto di midollo osse
Diagnostica Molecolare della Celiachia: come, quando e perchè
No full textViene descritto il ruolo della tipizzazione HLA e della caratterizzazione di altri geni nella valutazione della predisposizione alla malattia celiaca nei soggetti familiari di celiaci
Direct detection of exon deletions/duplications in female carriers of and male patients with Duchenne/Becker muscular dystrophy.
No full textDuchenne and Becker muscular dystrophies (DMD/
BMD) are X-linked allelic neuromuscular disorders that
have a prevalence of 1 in 3500 live-born males. The genetic
defect is the result of mutations of the dystrophin gene,
which encodes a 427-kDa rod-shaped cytoskeletal protein. The locus is very unstable: one-third of all DMD/
BMD cases represent new mutations without a family
history of the disease. Approximately 50–70% of
DMD/BMD cases are the result of macrodeletions, and
partial gene duplications have been reported in 6% of
patients. Both macrodeletions and macroduplications
are preferentially clustered in two areas, the aminoterminal
(exons 3–7) and the central (exons 44–55) regions. The remaining cases are presumably attributable to
point mutations or small insertions/deletions scattered
along the entire gene. PCR detection of macrodeletions
is very useful in the analysis of affected males,
but it provides no information about the carrier status of
at-risk women. Carrier status within families is usually
assessed by haplotype analysis, fluorescence in situ
hybridization, amplification of ectopic transcripts, dosage analysis on Southern blots, or separation
of quantitative PCR products by gel electrophoresis.
Semiquantitative methods, based on the separation of
fluorescently labeled amplified exons by gel or capillary
electrophoresis, are also available.
Here we report a quantitative PCR method, followed by
separation by capillary gel electrophoresis of the fluorescently labeled amplified exons of hot spot regions of the dystrophin gene, which allowed us to detect 99% patients (affected males and female carriers) with macrodeletions and 89% with macroduplications, and to identify small insertions or deletions in those regions
A case of discordance between phenotype and genotype in malignant hyperthermia in the presence of the arg614cys mutation in the RYR1 gene
No full textLinkage analysis of the ryanodine receptor (RYR1) gene in Italian malignant hyperthermia families.
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