Download Medical Genetics (1st Edition) by G. Bradley Schaefer, James N. Thompson PDF

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By G. Bradley Schaefer, James N. Thompson

A whole introductory textual content on tips on how to combine simple genetic ideas into the perform of medical 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 really is meant to be a textual content so that you can use all through clinical university and refer again to while questions come up in the course of residency and, finally, perform. Medical Genetics is written as a story the place every one bankruptcy builds upon the root laid via prior ones. Chapters is usually used as stand-alone studying aids for particular subject matters.

Taken as an entire, this well timed ebook grants an entire assessment of genetics in drugs. you can find in-depth, specialist assurance of such key themes as:
• The constitution and serve as of genes
• Cytogenetics
• Mendelian inheritance
• Mutations
• Genetic trying out and screening
• Genetic cures
• problems of organelles
• Key genetic ailments, problems, and syndromes

Each bankruptcy of Medical Genetics is logically prepared into 3 sections:
• heritage and structures – contains the elemental genetic rules had to comprehend the scientific program
• scientific Genetics – includes the entire pertinent info essential to construct a powerful wisdom base for being profitable on each step of the USMLE
• Case examine software – comprises case examine examples to demonstrate how easy ideas practice to real-world patent care

Today, with each portion of overall healthiness care supply requiring a operating wisdom of middle genetic ideas, Medical Genetics is a real must-read for each clinician.

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Additional resources for Medical Genetics (1st Edition)

Example text

RNA polymerase σ factor 5′ RNA RNA–DNA hybrid region 3′ AU T C GC A TA CG Coding strand G Template strand 3′ Rewinding of DNA RNA polymerase Open complex Unwinding of DNA Direction of transcription 3′ 5′ Nucleotide being added to the 3′ end of the RNA Nucleoside triphosphates Promotor region Figure 2-17. Key events in the synthesis of an RNA transcript. –35 (Reprinted with permission from Brooker RJ: Genetics: Analysis & Principles, 3rd ed. ) –10 After sliding along the DNA, σ factor recognizes a promoter, and RNA polymerase holoenzyme forms a closed complex.

The use of heat-adapted Taq polymerase means that the enzyme is not destroyed each time the reaction is heated to 94°C-95°C to melt the DNA. Transcription and RNA processing Transcription is the process of synthesizing a single-stranded RNA molecule from an active gene, literally “transcribing” a copy of the genetic message. The molecular signals that actually initiate the process will be part of our discussion of development and pattern formation in Chapter 3. Here we will focus upon the events that yield the initial RNA transcript and will introduce some of the processes that modify this transcript into one or more functionally-related mature mRNA molecules.

The promoters for other RNA polymerase differ from this pattern. (Reprinted with permission from Brooker RJ: Genetics: Analysis & Principles, 3rd ed. ) greater variation among promoter sequences and a larger role for a range of regulatory elements. Transcription begins when RNA polymerase II, general transcription factors, and a mediator bind to a promoter sequence (Figure 2-18). With typically 12 subunits in RNA polymerase II, 5 general transcription factors, and a mediator with multiple subunits, this is a complex in every sense of the word (Figure 2-19).

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