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Gene density and transcription influence the localization of
Gene density and transcription influence the localization of

... T-band 11p15.5 contains at least 47 known genes within the most distal 4.5 megabase (Mb) of DNA. We found that many megabases of this chromatin is frequently found outside of the visible confines of the 11p territory. By extending this observation to other gene-dense parts of the human genome includ ...
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Examples of aneuplody in humans
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Autosomal aberrations associated with testicular dysgenesis or
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...  4.1.1 State that eukaryote chromosomes are made of DNA and proteins.  4.1.2 Define gene, allele and genome.  4.1.3 Define gene mutation.  4.1.4 Explain the consequence of a base substitution mutation in relation to the processes of transcription and translation, using the example of sickle-cell ...
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Critical concepts include: pedigrees, autosomal dominant traits
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Assay for Methylation of genes

... MSI testing on the affected family member’s colorectal tumour and if the tumour is found to exhibit MSI, then the patient/family may consider germline testing for mutations in the hMSH2 and hMLH1 genes, which in combination account for 60% of HNPCC cases. MSI +ve pathways proceed with little eviden ...
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Human Genetic Disorders - Virtual Learning Environment

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... that 11q23 breakpoints are recurrent in the sporadic but not the A-T related form of the disease); an initial report of ATM mutations in T-PLL demonstrated the principle that ATM was a candidate cancer gene in sporadic forms of malignancies prevalent in A-T; the identification of lesions in ATM asso ...
Differential Gene Expression
Differential Gene Expression

... Mammals, Drosophila, nematodes – XX = female, XY = male; diploid XXs have double the X gene products as diploid XYs Drosophila – transcription rate of male X is doubled C. elegans – both Xs partially repressed (♀ = hermaphrodite) Mammals - Inactivation of a single X chromosome in mammalian XX cells ...
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X-inactivation



X-inactivation (also called lyonization) is a process by which one of the two copies of the X chromosome present in female mammals is inactivated. The inactive X chromosome is silenced by its being packaged in such a way that it has a transcriptionally inactive structure called heterochromatin. As nearly all female mammals have two X chromosomes, X-inactivation prevents them from having twice as many X chromosome gene products as males, who only possess a single copy of the X chromosome (see dosage compensation). The choice of which X chromosome will be inactivated is random in placental mammals such as humans, but once an X chromosome is inactivated it will remain inactive throughout the lifetime of the cell and its descendants in the organism. Unlike the random X-inactivation in placental mammals, inactivation in marsupials applies exclusively to the paternally derived X chromosome.
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