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    Human Genetics in Nursing Practice NUR 473: Dr. Khaloud Alzahrani Assistant Professor of Molecular Genetics

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    Barrak Aldosary
    This document discusses human genetics and chromosomes. It begins with an overview of chromosomes, including their structure with DNA, histones, centromeres, and telomeres. It then covers cytogenetics, karyotyping, and how scientists identify chromosomes based on size, centromere position, and banding patterns. The document also summarizes the human genome, explaining that humans have 23 chromosome pairs, including one sex chromosome pair, and covers the goals and findings of the Human Genome Project, which mapped the entire human genome sequence.

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    Human Genetics in Nursing Practice NUR 473: Dr. Khaloud Alzahrani Assistant Professor of Molecular Genetics

    Uploaded by

    Barrak Aldosary
    43 views24 pages
    This document discusses human genetics and chromosomes. It begins with an overview of chromosomes, including their structure with DNA, histones, centromeres, and telomeres. It then covers cytogenetics, karyotyping, and how scientists identify chromosomes based on size, centromere position, and banding patterns. The document also summarizes the human genome, explaining that humans have 23 chromosome pairs, including one sex chromosome pair, and covers the goals and findings of the Human Genome Project, which mapped the entire human genome sequence.

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    This document discusses human genetics and chromosomes. It begins with an overview of chromosomes, including their structure with DNA, histones, centromeres, and telomeres. It then covers cytogenetics, karyotyping, and how scientists identify chromosomes based on size, centromere position, and banding patterns. The document also summarizes the human genome, explaining that humans have 23 chromosome pairs, including one sex chromosome pair, and covers the goals and findings of the Human Genome Project, which mapped the entire human genome sequence.

    Copyright:

    © All Rights Reserved
    Download as PDF, TXT or read online from Scribd
    Download as pdf or txt
    43 views24 pages

    Human Genetics in Nursing Practice NUR 473: Dr. Khaloud Alzahrani Assistant Professor of Molecular Genetics

    Uploaded by

    Barrak Aldosary
    This document discusses human genetics and chromosomes. It begins with an overview of chromosomes, including their structure with DNA, histones, centromeres, and telomeres. It then covers cytogenetics, karyotyping, and how scientists identify chromosomes based on size, centromere position, and banding patterns. The document also summarizes the human genome, explaining that humans have 23 chromosome pairs, including one sex chromosome pair, and covers the goals and findings of the Human Genome Project, which mapped the entire human genome sequence.

    Copyright:

    © All Rights Reserved
    Download as PDF, TXT or read online from Scribd
    Download as pdf or txt
    of 24

    Human Genetics in Nursing Practice

    NUR 473

    Dr. Khaloud Alzahrani


    1
    Assistant Professor of Molecular Genetics
    Chromosomes

    2
    Chromosomes
    ✔DNA packaging in a thread-like structures located inside the
    nucleus.

    ✔Each chromosome is made of: the DNA double helix is packaged


    by special proteins (histones) to form a complex structure called
    chromatin.

    ✔Histone proteins provide structural support and play a role in


    controlling the activities of the genes.

    ✔Chromosomes are arranged in pairs.

    Only visible during cell division

    3
    Chromosome Structure
    ✔Centromere:
    The most condensed and constricted region of linear
    chromosomes.
    Helps to keep chromosomes properly aligned when cells
    divide.

    ✔Chromosome's arms :
    The regions on either side of the centromere.
    “p arm : The short arm of the chromosome.
    “q arm”: The long arm of the chromosome.

    ✔Telomeres :
    Repetitive stretches of DNA located at the ends of linear
    chromosomes.
    They protect the ends of chromosomes. 

    4
    Chromosome Structure

    5
    Study of chromosomes:
    Cytogenetics

    6
    Human karyotype

    7
    Human Genome

    ✔ The genetic information of an individual is


    contained in 23 pairs of chromosomes.

    ✔One pair is called sex chromosomes


    Male: XY
    Female: XX

    ✔ Other 22 pairs of homologous chromosomes are


    called autosomes.

    ✔ Two autosomal chromosomes in the same pair are


    called homologous chromosomes.

    8
    How do Scientists Identify Chromosomes?
    Scientists use three key features to identify their similarities and differences:
    1.On the base of size.  This is the easiest way
    to tell chromosomes apart.

    2.On the base of the Centromere


    position. Centromeres appear as a
    constriction. They have a role in the
    separation of chromosomes into daughter
    cells during cell division (mitosis and
    meiosis).

    3. Banding pattern. The size and location of


    Giemsa bands make each chromosome
    unique.

    3.
    9
    Chromosomes identification
    based on size

    10
    Chromosomes identification
    based on centromere position

    11
    Chromosomes identification based
    on banding pattern
    ● Different dyes and stains produce banding patterns specific to each
    chromosome.

    12
    13
    Chromosomes ideograms
    Provide a schematic representation of
    chromosomes. They are used to show the relative
    size of the chromosomes and their characteristic
    banding patterns.
    14
    Karyotyping testing example

    15
    Karyotyping testing example

    16
    The Human Genome Project
    ●

    17
    The Human Genome Project

    The goals of the Human Genome Project were to

    ❖ Determine the complete sequence of the 3


    billion DNA subunits (bases)
    ❖ Identify all human genes
    ❖ Make that information accessible for
    further biological studies

    The project was completed in 2003 and identified


    approximately 25,000 genes in human DNA.

    18
    Human Genome Project
    ❖ • The human genome contains 3.2 billion chemical
    nucleotide bases (A, C, T, and G).

    ❖ Chromosome 1 (the largest human chromosome) has the


    most genes (3168), and the Y chromosome has the fewest
    (344).

    ❖ The average gene consists of 3000 bases, but sizes vary


    greatly.

    ❖ The largest known human gene is dystrophin, which has


    2.4 million base pairs.
    ❖ The human genome is nearly the same in ALL people
    (99.9%)

    ❖ Approximately 2% of the genome encodes instructions for


    the synthesis of proteins.
    19
    Human Genome Project

    ❖ Functions are unknown for more than 50% of


    discovered genes.

    ❖ All people are 99.9% identical in genetic makeup,


    but differences in the remaining 0.1% offer
    important clues about health and disease.

    ❖ Particular gene sequences have been associated


    with numerous diseases and disorders, including
    breast cancer, muscle disease, deafness, and
    blindness.
    20
    21
    22
    If you want to learn more about the Human genome project

    https://www.youtube.com/watch?v=-hryHoTIHak

    23
    Thank you!

    24

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