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Problem URL. Describe the connection issue. SearchWorks Catalog Stanford Libraries. Statistical genetics : gene mapping through linkage and association.
Responsibility edited by Benjamin M Neale Physical description xxviii, p. Online Available online. Full view. SAL3 off-campus storage. S73 Available. More options. Biometrics 55 , — Laird, N. Spielman, R. Hirschhorn, J. Martin, E. Gordon, D.
Genetic linkage analysis in the age of whole-genome sequencing
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Statistical Genetics: Gene Mapping Through Linkage and Association - CRC Press Book
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- Gene Mapping Through Linkage and Association, 1st Edition.
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Early Hum. By now, genes that have been isolated in this way include examples from all types of neurologic diseases, from neurodegenerative diseases such as Alzheimer, Parkinson, or ataxias, to diseases of ion channels leading to periodic paralysis or hemiplegic migraine, to tumor syndromes such as neurofibromatosis types 1 and 2.see url
Statistical genetics : gene mapping through linkage and association
With the advent of new genetic markers and automated genotyping, genetic mapping can be conducted extremely rapidly. Genetic linkage maps have been generated for the human genome and for model organisms and have provided the basis for the construction of physical maps that permit the rapid mapping of disease traits.
As soon as a chromosomal location for a disease phenotype has been established, genetic linkage analysis helps determine whether the disease phenotype is only caused by mutation in a single gene or mutations in other genes can give rise to an identical or similar phenotype. Often it is found that similar phenotypes can be caused by mutations in very different genes.
Good examples are the autosomal dominant spinocerebellar ataxias, which are caused by mutations in different genes but have very similar phenotypes. In addition to providing novel, genotype-based classifications of neurologic diseases, genetic linkage analysis can aid in diagnosis. However, in contrast to direct mutational analysis such as detection of an expanded CAG repeat in the Huntingtin gene, diagnosis using flanking markers requires the analysis of several family members. When Mendel observed an "independent assortment of traits" Mendel's second law , he was fortunate to have chosen traits that were not localized close to one another on the same chromosome.
Studying Drosophila genetics, T. Morgan showed that the degree of linkage increased with physical proximity of the genes and that the 4 genetic linkage groups actually corresponded to the presence of 4 chromosomes in Drosophila. The first trait in humans linked to a chromosome was actually sex itself. This was followed by linkage of the Duffy locus to chromosome 1 after the observation that certain Duffy blood group alleles were linked to a microscopically visible chromosome 1 polymorphism.
Interestingly, the Duffy locus was also the first protein polymorphism linked to a neurologic disease, the Charcot-Marie-Tooth locus on chromosome 1, now called CMT1B. The segregation of an autosomal dominant disease trait and alleles at 3 marker loci is illustrated in Figure 1. The markers are perfectly informative, since individual II-1 is heterozygous at the 3-marker loci. Comparison of haplotypes of individuals I-1 and II-2 indicates that the haplotype marks the chromosome with the disease mutation.
The 2 allele of marker B shows perfect cosegregation with the disease trait, whereas the 1 allele cosegregates with the wild-type normal phenotype. Marker A shows one recombination event in the unaffected individual III, whereas marker C detects multiple recombination events. Thus, the disease trait shows linkage to markers A and B, but it is unlinked to marker C. It is also interesting to examine the recombination occurring between the marker loci.