Single gene disorders

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  • (bq) part 2 book “abc of clinical genetics” has contents: single gene disorders, genetics of common disorders, prenatal diagnosis, dna structure and gene expression, gene mapping and molecular pathology, techniques of dna analysis, molecular analysis of mendelian disorders,… and other contents.

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  • Microdeletion Syndromes The term contiguous gene syndrome refers to genetic disorders that mimic a combination of single-gene disorders. They result from the deletion of a small number of tightly clustered genes. Because some are too small to be detected cytogenetically, they are termed microdeletions. The application of molecular techniques has led to the identification of at least 18 of these microdeletion syndromes (Table 63-4). Some of the more common ones include the Wilms' tumor–aniridia complex (WAGR), Miller Dieker syndrome (MDS), and velocardiofacial (VCF) syndrome.

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  • Deferasirox is a promising oral iron-chelating agent. Single daily doses of 20 or 30 mg deferasirox produced reductions in liver iron concentration comparable to desferoxamine in chronically transfused adult and pediatric patients. Deferasirox produces some elevations in liver enzymes and slight but persistent increases in serum creatinine, without apparent clinical consequence. Other toxicities are similar to those of desferoxamine. Its toxicity profile is acceptable, although long-term effects are still being evaluated.

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  • Historically, genetic and genomic techniques in paediatrics have been most intensively applied to the study of single gene disorders. New technologies in genomics are providing us with the ability to obtain vast amounts of data which is revolutionizing the potential for unravelling the complexity of multi-gene as well as complex diseases, with direct and significant impacts on child and adult health across Canada.

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  • The gene encoding the mu-opioid receptor (OPRM1) has been reported to associate with a range of substance dependence and HRH2 is the gene coding histamine H2 receptor, the site of action for various compounds, e.g. amitriptiline and mianserin, used in the treatment of psychiatric disorders. Both OPRM1and HRH2 genes contain some single nucleotide polymorphisms (SNPs), including +118A/G in OPRM1 and +398T/C in HRH2, which were reported to change in protein sequences and result in affecting the therapeutic response. ...

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  • How variations in genes contribute to variations in disease risk has been a subject of study for more than 100 years (IOM, 2006). Until fairly recently research focused on single genes that give rise to rare genetic diseases such as cystic fibrosis or Huntington’s disease.

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  • Presence of epigenetic marks enables cells with the same genotype have potential to display different phenotypes and differentiate into many cell-types with different functions, and responses to environmental and intercellular signaling. For example, DNA methylation is essential for the process of imprinting. Imprinted genes are expressed from only one parental allele. This mono-allelic gene expression is directed by epigenetic marks established in the mammalian germ line and a single mutation, either genetic or epigenetic, can cause disease.

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  • The second chapter discusses how DNA bisulfite treatment together with high-throughput sequencing allows determining the DNA methylation on a whole genome scale at single cytosine resolution and introduces software for analysis of bisulfite sequencing data. The third chapter presents analysis of GC3-rich genes that have more methylation targets.

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  • Figure 62-10 Segregation of alleles. Segregation of genotypes in the offspring of parents with one dominant (A) and one recessive (a) allele. The distribution of the parental alleles to their offspring depends on the combination present in the parents. Filled symbols = affected individuals. Autosomal Dominant Disorders Autosomal dominant disorders assume particular relevance because mutations in a single allele are sufficient to cause the disease.

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  • There have been great strides in using positional cloning to successfully identify the underlying basis of many Mendelian disorders of children. The severity of even these disorders, however, is greatly affected by genetic modifiers and gene- environment interactions. The molecular pathogenesis of many more complex disorders remains unexplained due to the often complex genetic, epigenetic and environmental interactions involved in their etiology. However, there is reason for optimism.

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