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NAME___________________________________
NAME___________________________________

... a.   The genotype is the physical appearance of a trait. b.   Alleles, genes, and loci are different names for the same thing. c.   The phenotype of a dominant allele is never seen in the F1 progeny of a monohybrid cross. d.   A testcross can be used to determine whether an individual is homozygous ...
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Chapter 1: Even fish obey Mendel`s laws
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Chapter 1: Even fish obey Mendel`s laws
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... 1. An individual with two alleles for the disorder develops fatty deposits in the skin and tendons and may have a heart attack as a child. 2. An individual with one normal allele and one FH allele may suffer a heart attack as a young adult. 3. An individual with two normal alleles does not have the ...
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Translocation Breakpoints Are Clustered on Both Chromosome 8
Translocation Breakpoints Are Clustered on Both Chromosome 8

... library spanning most of the intron centromeric to the fifth reported AMLl exon.7 This is the region where chromosome 21 breakpoints were suggested to cluster in the t(8;21). As the intron contains a single BamHI site, rearrangements within it can be investigated using probes for the two fragments g ...
outline27993
outline27993

... 1. Numerical anomalies can result in either aneuploidy or polyploidy. About 10% of all embryos have an incorrect chromosome number, but most of these result in miscarriages. a. Aneuploidy indicates that the chromosome number per cell is not an integral multiple of the haploid number. Thus, it descri ...
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Skewed X-inactivation

Skewed X chromosome inactivation occurs when the inactivation of one X chromosome is favored over the other, leading to an uneven number of cells with each chromosome inactivated. It is usually defined as one allele being found on the active X chromosome in over 75% of cells, and extreme skewing is when over 90% of cells have inactivated the same X chromosome. It can be caused by primary nonrandom inactivation, either by chance due to a small cell pool or directed by genes, or caused by secondary nonrandom inactivation, which occurs by selection. Most females will have some levels of skewing. It is relatively common in adult females; around 35% of women have skewed ratio over 70:30, and 7% of women have an extreme skewed ratio of over 90:10. This is of medical significance due to the potential for the expression of disease genes present on the X chromosome that are normally not expressed due to random X inactivation. X chromosome inactivation occurs in females to provide dosage compensation between the sexes. If females kept both X chromosomes active they would have twice the number of active X genes than males, who only have one copy of the X chromosome. At approximately the time of implantation (see Implantation (human embryo), one of the two X chromosomes is randomly selected for inactivation. The cell undergoes transcriptional and epigenetic changes to ensure this inactivation is permanent. All progeny from these initial cells will maintain the inactivation of the same chromosome, resulting in a mosaic pattern of cells in females.
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