By Lynn B. Jorde PhD, John C. Carey MD MPH, Michael J. Bamshad MD

ISBN-10: 0323188354

ISBN-13: 9780323188357

Popular for its highly visible, medical approach, Medical Genetics provides an obtainable but thorough knowing of this energetic and fast-changing box. Key updates during this new version conceal the most recent advancements that are built-in with medical perform to stress the central principles and how they follow to practice. pictures, illustrations, and tables, in addition to containers containing patient/family vignettes demonstrate scientific relevance and enhance visible impact of the fabric for simpler and more beneficial studying and retention.

  • Includes access to the full textual content and pictures online at besides two hundred extra USMLE-style questions for self-assessment.
  • Mini-summaries, examine questions, advised studying, and a close thesaurus complement and reinforce what you study from the text.
  • More than 230 photographs, illustrations, and tables, in addition to patient/family vignettes make clear tough options and exhibit medical significance.
  • Clinical observation Boxes aid exhibit how the challenging technological know-how of genetics has actual purposes to daily sufferer difficulties and get ready you for problem-based built-in courses.

  • The newest wisdom and research on gene id, melanoma genetics, gene trying out and gene remedy, universal problems, moral and social matters, and masses extra so that you can stay alongside of present advancements in genetics.
  • Student seek advice e-book model integrated with buy. This greater book adventure allows entry to two hundred extra USMLE questions, in addition to new fabrics (outlined above) designed to supply a extra rounded studying experience.

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Extra resources for Medical Genetics, 5e

Sample text

Mutations are the ultimate source of genetic variation. Some mutations result in genetic disease, but most have no physical effects. The principal types of mutation are missense, nonsense, frameshift, promoter, and splice-site mutations. Mutations can also be caused by the random insertion of mobile elements, and some genetic diseases are known to be caused by expanded repeats. Molecular Consequences of Mutation It is useful to think of mutations in terms of their effects on the protein product.

In addition, mitotic errors that occur early in the life of the embryo can affect enough of the body’s cells to produce clinically significant disease. Mitotic errors occurring at any point in one’s lifetime can, under some circumstances, cause cancer. Cancer genetics is discussed in Chapter 11, and chromosome disorders are the subject of Chapter 6. The Relationship between Meiosis and Gametogenesis The stages of meiosis can be related directly to stages in gametogenesis, the formation of gametes (see Fig.

26 CHAPTER 2 Basic Cell Biology: Structure and Function of Genes and Chromosomes Homologous chromosomes Maternal Paternal Centromere Sister chromatids Sister chromatids Crossing over between homologous chromosomes Chiasma Result of crossing over FIG 2-22 The process of chiasma formation and crossing over results in the exchange of genetic material between homologous chromosomes. The equational division, meiosis II, then begins with interphase II. This is a very brief phase. The important feature of interphase II is that, unlike interphase I, no replication of DNA occurs.

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Medical Genetics, 5e by Lynn B. Jorde PhD, John C. Carey MD MPH, Michael J. Bamshad MD

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