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医学遗传学

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医学遗传学

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  • 医学遗传学
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    内容简介

    内容简介

    《医学遗传学》主要内容:A third source of fetal tissue for genetic study is the fetal blood supply.
    For this technique a very fine needle is used with ultrasonic guidance to obtain a blood sample from the umbilical vein of the developing fetus. This technique is performed at centers having specialized experience with the procedure and also serves as a useful source of cells for DNA or protein studies. Fetal cells grow rapidly, and hematological and chromosome studies are usually possible in less than 1 week (see Table 2.5).

    作者简介

    目录

    A. PROTEINS
    B. DNA
    1. Gene Structure
    2. Tools of Molecular Genetics
    C. MUTATIONS
    D. CHROMOSOMES
    1. Long-Range Gene Relationships and Gene Map
    2. Physical Study miques
    3. Mitosis
    4. Meiosis
    5. Mitochondrial DNA
    6. Linkage
    E. PEDIGREE ANALYSIS
    1. Symbols
    2. Ascertainment
    B. PRENATAL DIAGNOSIS
    1. Ultrasound
    2. Amniocentesis
    3. Chorionic Villus Sampling
    4. Fetal Blood Sampling
    5. Maternal Blood Sampling
    6. AIpha-Fetoprotein
    7. Preimplantatiou Diagnosis for In Vitro Fertilization
    A. CHANGES IN CHROMOSOME NUMBER
    B. DOWN SYNDROME
    1. Clinical Aspects
    2. Genetic Aspects of Down Syndrome
    3. Less Common Karyotype Changes in Down Syndrome
    a. Translocations
    b. Mosaicism
    C. SEX CHROMOSOMES
    1. X-Chromosome Inactivation
    2. XO Females (Turner Syndrome)
    3. XXY Males (Klinefelter Syndrome)
    D. CHROMOSOME STRUCTURE CHANGES
    1. Deletions
    2. Inversions, Duplications, Insertions
    3. Translocations
    4. Other Structural Changes
    E. IMPRINTING
    ……

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