By Jonathan L. Haines, Margaret A. Pericak-Vance
Second version beneficial properties the most recent instruments for uncovering the genetic foundation of human disease
The Second Edition of this landmark book brings jointly a workforce of top specialists within the box to entirely replace the ebook. Readers will detect the large advances made in human genetics within the seven years that experience elapsed because the First Edition. once more, the editors have assembled a finished creation to the thoughts, designs, and strategies of study for the invention of genes in universal and genetically complicated characteristics. The turning out to be social, felony, and moral matters surrounding the sector are completely tested as well.
Rather than concentrating on technical info or specific methodologies, the editors take a broader technique that emphasizes options and experimental layout. Readers conversant in the First Edition will locate new and state-of-the-art fabric included into the text:
- Updated displays of bioinformatics, a number of comparisons, pattern dimension specifications, parametric linkage research, case-control and family-based methods, and genomic screening
- New tools for research of gene-gene and gene-environment interactions
- A thoroughly rewritten and up to date bankruptcy on deciding upon genetic parts of disease
- New chapters protecting molecular genomic methods comparable to microarray and SAGE analyses utilizing unmarried nucleotide polymorphism (SNP) and cDNA expression info, in addition to quantitative trait loci (QTL) mapping
The editors, of the world's prime genetic epidemiologists, have ensured that every bankruptcy adheres to a constant and excessive ordinary. each comprises all-new dialogue questions and functional examples. bankruptcy summaries spotlight key issues, and an inventory of references for every bankruptcy opens the door to extra research of particular topics.
Molecular biologists, human geneticists, genetic epidemiologists, and medical and pharmaceutical researchers will locate the Second Edition a invaluable consultant to knowing the genetic foundation of human sickness, with its new instruments for detecting probability elements and researching therapy strategies.
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Extra resources for Genetic Analysis of Complex Disease
Down syndrome is often called trisomy 21 because patients have a total of 47 chromosomes, with three copies of chromosome 21. A monosomy, or the absence of a second member of a chromosome pair, is rarely viable. A noted exception is Turner syndrome, in which a female has a total of 45 chromosomes, only one of which is an X chromosome. Triploidy and tetraploidy are the terms for the presence of one or two entire extra sets of chromosomes, leading to a total of 69 or 92 chromosomes. These anomalies, which usually are inviable in humans, are due to errors in fertilization such as dispermy (two sperm fertilizing an ovum) or failure of the ovum’s polar body to separate.
The assumption of complete penetrance of the disease allele allows all unaffected individuals in the pedigree to be assigned a disease genotype of NN. Since the disease allele is assumed rare, the disease genotype for affected individuals can be assigned a disease genotype of AN. In other words, ORDERING AND SPACING OF LOCI BY MAPPING TECHNIQUES 35 since the disease allele is rare, the chance that an affected individual is homozygous for the disease allele is so small that, for the purposes of this example, it can be considered to be zero.
3). The phenotypes of myotonic dystrophy, Huntington disease, and Machado – Joseph disease, among others, are associated with anticipation, a clinical phenomenon in which disease severity worsens in each successive generation (see also Chapter 2). Because disease expression can be quite variable and difﬁcult to measure, age of onset is frequently utilized as an analogue of severity, and anticipation is then observed as a decreasing mean age of onset with each passing generation. , 1995). None of these disorders is proven to be caused by trinucleotide repeat expansions, and elucidation of their underlying defect will shed additional light on the phenomenon of anticipation.
Genetic Analysis of Complex Disease by Jonathan L. Haines, Margaret A. Pericak-Vance