Scribd Logo
Загрузить

Добро пожаловать в Scribd!

  • O'Toole Grace 11100387 Bloom Syndrome

    Загружено:

    Charles Ippolito
    234 просмотров16 страниц
    BloomTorreMachacek syndrome is an autosomal recessive gene characterized by high levels of sister chromatids. Chromosome 15 gene mutation leads to increased mutations inactivate BLM protein's DNA helicase activity or nullify protein expression. Mutation brings high risk of cancer Elevated rate of leukemia, lymphomas, and carcinomas approximately 25 years old.

    Исходное описание:

    Авторское право

    © Attribution Non-Commercial (BY-NC)

    Доступные форматы

    PPTX, PDF, TXT или читайте онлайн в Scribd

    Этот документ был вам полезен?

    Это неприемлемый материал?

    Пожаловаться на этот документ
    BloomTorreMachacek syndrome is an autosomal recessive gene characterized by high levels of sister chromatids. Chromosome 15 gene mutation leads to increased mutations inactivate BLM protein's DNA helicase activity or nullify protein expression. Mutation brings high risk of cancer Elevated rate of leukemia, lymphomas, and carcinomas approximately 25 years old.

    Авторское право:

    Attribution Non-Commercial (BY-NC)
    Скачайте в формате PPTX, PDF, TXT или читайте онлайн в Scribd
    Отметить как неприемлемый контент
    234 просмотров16 страниц

    O'Toole Grace 11100387 Bloom Syndrome

    Загружено:

    Charles Ippolito
    BloomTorreMachacek syndrome is an autosomal recessive gene characterized by high levels of sister chromatids. Chromosome 15 gene mutation leads to increased mutations inactivate BLM protein's DNA helicase activity or nullify protein expression. Mutation brings high risk of cancer Elevated rate of leukemia, lymphomas, and carcinomas approximately 25 years old.

    Авторское право:

    Attribution Non-Commercial (BY-NC)
    Скачайте в формате PPTX, PDF, TXT или читайте онлайн в Scribd
    Отметить как неприемлемый контент
    из 16

    BLOOM SYNDROME

    Presentation by: Grace OToole


    aka: Bloom Torre Machacek syndrome

    History of Bloom
    1st identified by NY dermatologist Dr.
    David Bloom

    1st identified in 1954

    Cause of Bloom

    Autosomal recessive gene characterized by high levels of sister chromatids

    Syndrome problem on chromosome 15


    Cells have genomic instability with excessive homologous recombination Increase in chromosome breakage/rearrangement

    Cause: BLM gene


    Gene encoding protein

    Mutation of BLM gene


    Lack of BLM leads to
    increase mutations

    RecQL3 helicase

    inactivate BLM proteins DNA helicase activity or nullify protein expression

    Symptoms

    Short stature

    Clinical Features

    Rash developing from sun exposure

    High pitched voice


    Facial features: long/narrow face, micrognathism (undersized jaw), prominent nose/ears Skin pigmentation change: hypo/hyper-pigment & cafeau-lait spots (pigmented birthmarks) Telangiectasis (dilation of capillaries to appear red) in eyes

    Cont Skin Rash


    Erythematous
    (reddening), telangiectatic, infiltrated, & scaly shaped patch of skin across nose/cheek & back of hands

    Appears in butterfly-

    Cont Symptoms


    Moderate immune deficiency {specifically immunoglobulin classes} leads to recurrent pneumonia & ear infection Hypogonadism (failure to produce sperm) so infertile males Premature menopause for women

    Complications
    -Chronic lung problems -Diabetes -Learning disabilities -Small # of mental retardation cases -Susceptibility to cancer

    Elevated rate of Leukemia,


    lymphomas, & carcinomas develop cancer approximately 25 years old

    Bloom & Cancer

    mutation brings high risk of cancer

    Average age to

    Identification
    Confirmed
    through lab test: chromosome study for chromosome 15

    PCR assay test

    Diagnosis Markers
    Drastic
    intrauterine growth deficiency with erythematous skin developing cancer

    Small individual

    Frequency
    Found in larger
    quantity in Ashkenazic Jews (carriers 1/100)

    1/50,000 people

    affected of Central and Easter European Jewish background

    Possible carriers: Known carriers:


    genetic counseling & genetic testing

    Treatment for Identification

    prenatal testing using cytogenetic or molecular methods

    Treatment for Cases


    No treatment Preventative Measures:
    surveillance for cancer & decreased exposure to sunlight/X-rays marrow transplant

    Possibility: bone

    Bioethical Consequences
    Ethical problems to consider: Gene testing to be carriers calls into
    question for risk of child to be affected Bloom Syndrome child compared to child not afflicted

    Sibling contempt with smaller sized

    Bibliography a Baxter, Sarah. "BLM Gene Encodes

    O'Neil, Marla J. "Bloom Syndrome;

    RecQ Helicase." Davidson.edu. Davidson College Molecular Biology, n.d. Web. 25 Feb. 2013. <http://www.google.com/imgres?imgu rl=http://www.bio.davidson.edu/Cours es/Molbio/MolStudents/spring2003/B axter/BLM.gif>.

    BLM." Omim. Omim, Oct.-Nov. 2009. Web. 25 Feb. 2013. <http://omim.org/entry/210900>.

    Вам также может понравиться