Eric Engel, Stylianos E. Antonarakis's Genomic Imprinting and Uniparental Disomy in Medicine PDF

By Eric Engel, Stylianos E. Antonarakis

ISBN-10: 0471351261

ISBN-13: 9780471351269

ISBN-10: 0471459135

ISBN-13: 9780471459132

Eric Engel and Stylianos Antonarakis have written the main authoritative and important reference on molecular and medical facets of uniparental disomy (UPD) and genomic imprinting to this point. Genomic Imprinting and Uniparental Disomy in drugs good points entire overviews of a mess of genetic problems associated with UPD, with a powerful emphasis on medical results. This ebook will offer readers with the instruments essential to establish and deal with ailments linked to nontraditional chromosomal inheritance.
Genomic Imprinting and Uniparental Disomy in medication beneficial properties convenient tables summarizing medical phenotypes and chromosomal involvement in UPD, in addition to transparent illustrations on imprinting mechanisms and diagnostic checking out. This authoritative, thoroughly up to date useful reference can be helpful for any scientific geneticist, genetic counselor, health professional, or researcher encountering sufferers with such problems or learning complicated ailment mechanisms.

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W. and Dozy, A. M. Antenatal diagnosis of sickle-cell anaemia by DNA analysis of amniotic-fluid cells. Lancet 2:910–912, 1978. Kan, Y. W. and Dozy, A. M. Polymorphism of DNA sequence adjacent to human beta-globin structural gene: relationship to sickle mutation. Proc Natl Acad Sci U S A 75:5631–5635, 1978. , Christian, S. , Baylin, S. , Herman, J. G. and Ledbetter, D. H. Methylation-specific PCR simplifies imprinting analysis [letter]. Nat Genet 16:16–17, 1997. , Ledbetter, S. , Dobyns, W. , Emanuel, B.

Sapienza, C. Parental imprinting of genes. Sci Am 263:52–60, 1990. Searle, A. G. and Beechey, C. V. Complementation studies with mouse translocations. Cytogenet Cell Genet 20:282–303, 1978. Searle, A. G. and Beechey, C. V. Non-complementation phenomena and their bearing on nondisjunctional effects. , Voytek, P. and Hollander, P. 1985, Snell, G. D. An analysis of translocations in the mouse. Genetics 31:157–180, 1946. Solter, D. Differential imprinting and expression of maternal and paternal genomes.

A, B, C, and D depict the four different alleles of locus X on the long arm of the chromosomal pair shown next to the symbol of each individual. An image of the polymorphic alleles after gel electrophoresis and autoradiography is shown on the right panel. For the interpretation of the results of the analysis, see the text. The detection of the polymorphic alleles of a given locus can be performed using numerous laboratory techniques (Dean, 1995). , 1977); all for SNPs. For the SSRs, the method used is PCR and acrylamide gel electrophoresis for fragment size discrimination that could be done either manually or using the automated nucleotide sequencers.

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Genomic Imprinting and Uniparental Disomy in Medicine by Eric Engel, Stylianos E. Antonarakis


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