By G. Bradley Schaefer, James N. Thompson

An entire introductory textual content on tips on how to combine easy genetic ideas into the perform of scientific drugs

Medical Genetics is the 1st textual content to target the typical program of genetic evaluate and its diagnostic, healing, and preventive implications in scientific perform. it's meant to be a textual content for you to use all through scientific university and refer again to whilst questions come up in the course of residency and, ultimately, perform. Medical Genetics is written as a story the place each one bankruptcy builds upon the root laid via prior ones. Chapters is also used as stand-alone studying aids for particular subject matters.

Taken as an entire, this well timed publication provides an entire assessment of genetics in medication. you will discover in-depth, professional insurance of such key subject matters as:
• The constitution and serve as of genes
• Cytogenetics
• Mendelian inheritance
• Mutations
• Genetic trying out and screening
• Genetic remedies
• issues of organelles
• Key genetic illnesses, issues, and syndromes

Each bankruptcy of Medical Genetics is logically equipped into 3 sections:
• historical past and structures – comprises the fundamental genetic rules had to comprehend the clinical software
• clinical Genetics – comprises all of the pertinent info essential to construct a robust wisdom base for being profitable on each step of the USMLE
• Case learn software – accommodates case examine examples to demonstrate how simple rules follow to real-world patent care

Today, with each portion of future health care supply requiring a operating wisdom of center genetic rules, Medical Genetics is a real must-read for each clinician.

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Extra info for Medical Genetics (1st Edition)

Example text

In the major groove, the DNA bases are in contact with water, and proteins that regulate gene action can bind there. To replicate a double-stranded molecule, it is first necessary to separate it into two single-strands to serve as templates for new synthesis (Figure 2-5). But DNA is an alpha-helix. If you have ever tried to pull apart the individual strands of a twisted rope, you will realize that separating the twisted strands generates supercoiling of the remaining part. The occurrence of supercoiling and the fact that strands grow at only the 3′ end of the antiparallel single-strand templates means that the replication of DNA has special challenges.

If cartilage formation is retarded, what other body structures might be similarly affected through their cartilage? The nose and the cartilage disks between vertebrae are candidates. It might be hard to tell if a mouse’s nose is shorter than usual. But the vertebral disks can certainly have a noticeable effect on body length. Having normal-sized organs in a shortened abdomen can cramp structures like the ureters, leading to back pressure of urine into the kidneys and eventually to tissue damage.

In the previous section, some examples of regulation at the protein level were described. But we can formalize this idea by introducing the concept of posttranslational modification. Protein structure can be changed after translation in several ways. For example, a few amino acids can be removed from an end of the polypeptide, and that can change the protein’s activity. g. trypsinogen in this case) so they do not damage the cells that make them. They are then activated when they reach their working location.

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