By Jack J. Pasternak
An creation to Human Molecular GeneticsSecond EditionJack J. PasternakThe moment version of this the world over 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 process, the textual content deals readers an intensive clarification of the gene discovery strategy and the way faulty genes are associated with inherited sickness states in significant organ and tissue platforms. the entire 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, concepts and methods for gene manipulation, mapping, and isolation are tested. Readers will quite enjoy the text's tremendously thorough and transparent rationalization of genetic mapping. the ultimate half gains targeted insurance of the molecular genetics of specific organic structures, overlaying muscle, neurological, eye, melanoma, and mitochondrial problems. during the textual content, worthy figures and diagrams illustrate and make clear advanced material.Readers conversant in the 1st version will realize the text's similar lucid and fascinating kind, and should discover a wealth of latest and increased fabric that brings them absolutely brand new with a present figuring out of the sphere, including:* New chapters on advanced genetic issues, genomic imprinting, and human inhabitants genetics* multiplied and entirely revised part on scientific genetics, overlaying diagnostic checking out, molecular screening, and diverse treatmentsThis textual content is concentrated at upper-level undergraduate scholars, graduate scholars, and scientific scholars. it's also a superb reference for researchers and physicians who want a clinically suitable reference for the molecular genetics of inherited human ailments.
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Additional resources for An introduction to human molecular genetics: mechanisms of inherited diseases
In addition, ﬁndings in the social sciences contradicted many of the beliefs promulgated by the more ardent eugenicists. Despite a mass of accumulating evidence that eugenics programs could never be effective, the enthusiasm for controlling the perceived negative impact of “bad” genes continued during the 1930s. Sterilization laws were passed in a number of countries. It was only after the horrendous consequences of Nazi attempts to wipe out whole groups of people in the 1940s that the eugenics movement lost all credibility.
The products of meiosis I carry 23 duplicated chromosomes (23d) from cells that entered meiosis I with 46 chromosomes. Meiosis II consists of a combined G1/G2 phase followed by prophase II (PII), metaphase II (MII), and telophase II (TII). The ﬁnal products of the meiotic process are cells that contain 23 chromosomes that comprise one of each of the original set of 23 pairs of chromosomes. In human females, each meiotic process produces one functional gamete and three nonfunctional cells called polar bodies.
Dereymaeker et al. (1990) described a patient in whom calciﬁed aortic valve disease secondary to ochronosis necessitated urgent aortic valve replacement. , Sener, 1992). Zibolen et al. (2000) emphasized the increased frequency of urolithiasis in AKU patients younger than 15 years. They reported 5 such patients, in one of whom the diagnosis of urolithiasis had been made at the age of 2 years. Phornphutkul et al. (2002) provided a review of the natural history of alkaptonuria. They based the review on an evaluation of 58 patients with the disorder ranging in age from 4 to 80 years.