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Chromosome 1 and the Human Body

written by: Leigh A. Zaykoski•edited by: Leigh A. Zaykoski•updated: 11/29/2008

Chromosome 1 is the largest chromosome in humans. In this multi-part series, you'll learn about each of the chromosomes in the human body and how each one contributes to our overall genetic makeup.

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    Chromosomes in the human body contain genes, which determine individual characteristics from one person to another. The human body contains twenty-three pairs of chromosomes. Within these chromosomes are thousands of genes that determine an individual's characteristics. Genes can determine if a person will get cancer or if they will have an anatomical abnormality. Studying the chromosomes and genes can help scientists better understand how diseases develop and how they might be prevented.

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    Chromosome 1 Basic Characteristics

    Out of all the chromosomes in the human body, chromosome 1 is the largest. This chromosome contains 3,141 genes and has over 700,000 single nucleotide polymorphisms (Duke Medicine, 2006).

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    Chromosome 1 Genes

    Chromosome 1 contains many important genes that determine the characteristics of an individual. The ASPM gene helps to determine the brain size of an individual. GLCA1 is the gene for glaucoma, a condition affecting a person's eyes. HPC1 is also related to a medical condition; prostate cancer. The presence of a specific gene mutation does not indicate that a person will definitely develop a disease. This mutation increases the likelihood of the disease developing over the course of time. Genetic testing can reveal the presence of specific genetic mutations so that people can be informed about their options.

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    Chromosome 1 Diseases

    Many diseases are associated with the genes on chromosome 1. This chromosome contains 890 known genetic diseases, the most of any of the chromosomes in the human body. Alzheimer Disease and Alzheimer Disease Type 4 are associated with chromosome 1. Other diseases associated with chromosome 1 include congenital hypothyroidism, hemochromatosis, deafness, prostate cancer, Usher syndrome, and pheochromocytoma.

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    Chromosome 1 Reference Materials

    U.S. National Library of Medicine. Genetics Home Reference. "Chromosome 1." Retrieved November 29, 2008 from National Library of Medicine: National Institutes of Health.

    Duke Medicine News and Communications. "Genetic Mapping of Human Chromosome 1 Completed, Offering Insights Into Human Health." Published May 17, 2006. Retrieved November 29, 2006 from DukeHealth.