Jack J. Pasternak's An introduction to human molecular genetics: mechanisms of PDF

By Jack J. Pasternak

ISBN-10: 0471474266

ISBN-13: 9780471474265

An creation to Human Molecular GeneticsSecond EditionJack J. PasternakThe moment variation of this the world over acclaimed textual content expands its assurance of the molecular genetics of inherited human ailments with the newest study findings and discoveries. utilizing a special, systems-based process, the textual content deals readers an intensive clarification of the gene discovery method and the way faulty genes are associated with inherited ailment states in significant organ and tissue structures. the entire most up-to-date advancements in practical genomics, proteomics, and microarray know-how were completely included into the text.The first a part of the textual content introduces readers to the basics of cytogenetics and Mendelian genetics. subsequent, innovations and techniques for gene manipulation, mapping, and isolation are tested. Readers will quite delight in the text's incredibly thorough and transparent clarification of genetic mapping. the ultimate half beneficial properties targeted assurance of the molecular genetics of distinctive organic platforms, overlaying muscle, neurological, eye, melanoma, and mitochondrial issues. during the textual content, worthy figures and diagrams illustrate and make clear complicated material.Readers conversant in the 1st version will realize the text's similar lucid and fascinating variety, and may discover a wealth of recent and increased fabric that brings them totally modern with a present knowing of the sphere, including:* New chapters on advanced genetic issues, genomic imprinting, and human inhabitants genetics* increased and entirely revised part on scientific genetics, protecting diagnostic checking out, molecular screening, and diverse treatmentsThis textual content is concentrated at upper-level undergraduate scholars, graduate scholars, and clinical scholars. it's also a great reference for researchers and physicians who want a clinically correct 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

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Reading entries on a computer screen is tedious. A user should consider saving entries of interest, reading them at a more leisurely pace offline, and, if required, printing the relevant entries. OMIM has a number of other important features including links to a large number of databases of potential interest to OMIM users. In addition to OMIM, there are sites on the World Wide Web devoted to specific genetic disorders, such as Duchenne muscular dystrophy, that can be accessed by using addresses generated through a search engine.

A highly oversimplified formula, P = G + E, can be used to illustrate the nature–nurture problem, where P represents the characteristic (phenotype) and G and E represent genetic and environmental contributions, respectively. The sum of G and E equals 1 (unity). For example, a viral infection during early childhood may cause a severe mental disability. In this case, the phenotype results entirely from an environmental factor; hence, P equals E, with G equal to 0 (P = E; G = 0). On the other hand, the genetic disease PKU will cause severe mental disability if left untreated.

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. At metaphase the chromosome is duplicated, and each complete chromosome is a chromatid.

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An introduction to human molecular genetics: mechanisms of inherited diseases by Jack J. Pasternak

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