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GENETICS 603 EXAM III Dec. 5, 2002 NAME 5 6 7 8 1 2 4 3 I Gene
GENETICS 603 EXAM III Dec. 5, 2002 NAME 5 6 7 8 1 2 4 3 I Gene

... F) One baby in 10,000 in the US is born with PKU, which until very recently was a recessive lethal condition. Does it seem likely that the population is in equilibrium with mutation balanced by selection? (Explain) This would mean a mutation rate of 1 in 10,000 which seems a bit high; there may have ...
Homologous Chromosomes
Homologous Chromosomes

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Mitosis and Cell Division
Mitosis and Cell Division

... • Allele: A version (or flavor) of a gene; two alleles of the same gene my differ by a nucleotide or dozens of them--generally a small number • Dominant/recessive: Two alleles enter; one allele leaves (which version manifests in the organism) NOT which version is more common! • Mitosis vs Cell Divis ...
Chapter 13 Presentation-Meiosis and Chromosomes
Chapter 13 Presentation-Meiosis and Chromosomes

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Unit IIA Practice Exam (KEY) Unit_IIA_Exam_2.0_Key

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Mysterious Meiosis

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Genetic Mutation

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No Slide Title
No Slide Title

... Recessive Alleles -Many disorders are causes by recessive alleles and do not turn up in the population regularly due to this. The protein the gene codes for is not made in the homozygous recessive form. See examples below. PKU (Phenylketonuria) can cause mental retardation due to lack of enzyme phen ...
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Chapter 11 Notes: Mendelian Genetics

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... 1. The offspring of two parents obtains a single copy of every gene from each parent. 2. A gamete must contain one complete set of genes. 3. Genes are located at specific positions on spindles. 4. A pair of corresponding chromosomes is homozygous. 5. One member of each homologous chromosome pair com ...
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Blood Type and Sex Linked Inheritance

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Study Guide for Test on Chapter 11 and 14-1, 14-2

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Laws of Heredity -Single Gene Disorders

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DiseaseClinrevisionBhatiaZhaoChang 119.5 KB

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Genotype Analysis Identifies the Cause of the “Royal Disease”

... Bioinformatics analysis predicts that the IVS3-3A>G mutation at this evolutionarily conserved nucleotide creates a cryptic splice acceptor site (4), which shifts the open reading frame of the F9 mRNA, leading to a premature stop codon (Fig. 1B). To evaluate the effect of the mutation on RNA splicing ...
AP Biology Practice Exam #1
AP Biology Practice Exam #1

... a) Down syndrome b) phenylketonuria c) neurofibromatosis d) cystic fibrosis e) hemophilia _____74. Phenylketonuria is a) caused by mutated gene on chromosome 12. b) easily detested by high levels of phenylalanine in urine or blood. c) the most common inherited disease of the nervous system. d) due t ...
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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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