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National Repository of Grey Literature 2 records found  Search took 0.00 seconds. 
Use of massive parallel sequencing in determination of skewed X inactivation
 Veselková, Tereza ; Dvořáková, Lenka (advisor) ; Sedláček, Zdeněk (referee)
Skewed X chromosome inactivation has been often studied as a possible factor that influences manifestation of X-linked diseases in heterozygous women. Yet the association between phenotype and degree of skewing stays unclear for most disorders. Current works rely mostly on methods that are based on methyl-sensitive restriction while determining the X inactivation pattern and mainly the HUMARA assay which investigates the methylation profile in the AR gene. However those methods have some known disadvantages and therefore we are still seeking new methodical approaches. We used DNA isolated from whole blood and in some cases also buccal swabs to asses X inactivation patterns in 54 women using methylation-based methods for loci AR, CNKSR2 and RP2. Transcription-based assay was utilized to evaluate skewing of X inactivation in 32 of those women, whose samples were available for RNA extraction, using massive parallel sequencing and polymorphisms LAMP2 c.156A>T, IDS c.438C>T and ABCD1 c.1548G>A. Partly thanks to almost no stuttering during PCR the RP2 locus was the most informative in our study (71 % of women) and approximately the same number of women (69 %) were informative for the HUMARA assay. However when comparing the results of those two methods we determined difference greater than 10 % in...
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Molecular basis of X-linked adrenoleukodystrophy: phenotypic variability and skewed X inactivation in heterozygous females
 Veselková, Tereza ; Dvořáková, Lenka (advisor) ; Hřebíček, Martin (referee)
X-linked adrenoleukodystrophy (X-ALD) is an inherited peroxisomal disorder caused by mutations in the ABCD1 gene which codes for an ATP binding cassette transporter. As a consequence of these mutations very long chain fatty acids accumulate in cells and patients develop neuronal and adrenal pathologies. There is a broad phenotypic variability in men suffering from X-ALD but the severity of symptoms is independent of ABCD1 genotype. Therefore modifier genes and influence of environmental factors were suggested. Although X-ALD was originally referred to as gonosomal recesive, 88 % of heterozygote women over 60 have neurological symptoms. The association of skewed X chromosome inactivation and severity of disease was studied in several publications with conflicting results. Therefore the penetrance and expressivity of X-ALD in women is probably also influenced by other factors. Based on current knowledge future development of the disease cannot be predicted by evaluation of X inactivation patterns. Key words: X-linked adrenoleukodystrophy, very long chain fatty acids, ABCD1, X inactivation, heterozygotes
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