By Jack J. Pasternak
An advent to Human Molecular GeneticsSecond EditionJack J. PasternakThe moment version of this across the world acclaimed textual content expands its insurance of the molecular genetics of inherited human ailments with the most recent study findings and discoveries. utilizing a different, systems-based technique, the textual content bargains readers an intensive clarification of the gene discovery procedure and the way faulty genes are associated with inherited disorder states in significant organ and tissue platforms. all of the most recent advancements in sensible genomics, proteomics, and microarray expertise were completely integrated into the text.The first a part of the textual content introduces readers to the basics of cytogenetics and Mendelian genetics. subsequent, innovations and methods for gene manipulation, mapping, and isolation are tested. Readers will rather relish the text's really thorough and transparent clarification of genetic mapping. the ultimate half positive factors special assurance of the molecular genetics of particular organic structures, masking muscle, neurological, eye, melanoma, and mitochondrial problems. through the textual content, precious figures and diagrams illustrate and make clear complicated material.Readers accustomed to the 1st variation will realize the text's comparable lucid and fascinating variety, and should discover a wealth of latest and increased fabric that brings them totally brand new with a present knowing of the sphere, including:* New chapters on advanced genetic issues, genomic imprinting, and human inhabitants genetics* extended and entirely revised part on scientific genetics, masking diagnostic checking out, molecular screening, and diverse treatmentsThis textual content is focused at upper-level undergraduate scholars, graduate scholars, and clinical scholars. it's also a very good reference for researchers and physicians who desire a clinically suitable reference for the molecular genetics of inherited human illnesses.
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Extra info for An introduction to human molecular genetics: mechanisms of inherited diseases
In some chromosomes, the centromere is closer to one end and not necessarily in the middle. Specialized proteins bind to the outer faces of the two centromeres of each duplicated chromosome to form laminar structures called kinetochores. 2 Essential features of the phases of the cell division cycle of a cell with two pairs of chromosomes. 3 Metaphase chromosome. The centromere (primary constriction) is marked by the downward diagonal pattern. The kinetochore is the region of attachment of spindle ﬁbers that forms on the outward portion of the centromere.
E. 1902. The incidence of alkaptonuria: A study in chemical individuality. Lancet ii:1616–1620. r e v i e w of the draft version of the human genome sequence in 2001. This resource, which is continually updated, has streamlined human gene discovery. In addition, the characterization of disease-causing genes leads to defectivegene detection assays and more effective treatments for genetic diseases. , O. Temkin, and W. L. Strauss, Jr. ). 1968. Forerunners of Darwin: 1745–1859. Johns Hopkins Press, Baltimore, MD.
Second, the conceptual framework for determining patterns of transmission of units of genetic information (genes) from one generation to the next, established by Mendel, forms the basis for studying inherited traits in humans and all other sexually reproducing organisms. Third, it is essential to know how the information encoded in the genetic material (DNA) can be decoded and how proteins are produced. In other words, the fundamental principles of human molecular genetics cannot be examined in any detail without some understanding of cytogenetics, Mendelian genetics, and the molecular biology of DNA.
An introduction to human molecular genetics: mechanisms of inherited diseases by Jack J. Pasternak