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

By Eric Engel, Stylianos E. Antonarakis

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 so far. Genomic Imprinting and Uniparental Disomy in drugs gains finished overviews of a mess of genetic issues associated with UPD, with a robust emphasis on medical results. This publication will offer readers with the instruments essential to determine and deal with illnesses linked to nontraditional chromosomal inheritance.
Genomic Imprinting and Uniparental Disomy in medication gains convenient tables summarizing medical phenotypes and chromosomal involvement in UPD, in addition to transparent illustrations on imprinting mechanisms and diagnostic trying out. This authoritative, thoroughly updated useful reference could be necessary for any scientific geneticist, genetic counselor, health care professional, or researcher encountering sufferers with such issues or learning advanced ailment mechanisms.

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In all recognized pregnancies, there is a 4% incidence of trisomies (the most frequent of which is trisomy 16). A considerable number of the trisomy pregnancies result in spontaneous abortions in the first trimester. As much as 26% of spontaneous abortions show trisomies for almost all chromosomes (Hassold and Jacobs, 1984). There are numerous indications that UPD could result from the loss of one chromosome of an initial trisomy; this mechanism is termed trisomy rescue. Figure 1 shows the three possible outcomes of the single chromosomal loss in trisomy rescue.

Without 15q11-q13 deletions. Additional translocation 15 cases have been subsequently identified (Engel, 1995). (A) UPD in the Various Types of Centric fusion of Acrocentric Chromosomes The mechanism of UPD after trisomy rescue in a heterologous familial Robertsonian translocation of acrocentric chromosomes is shown in Figure 4. Cases of maternal or paternal t(13;14) and, more rarely, a maternal t(13;15) or t(14;15) have been described to cause paternal or maternal UPD14 or maternal UPD15 in the offspring.

And Maniatis, T. Detection of single base substitutions in total genomic DNA. Nature 313:495–498, 1985. , et al. Variable number of tandem repeat (VNTR) markers for human gene mapping. Science 235:1616–1622, 1987. Newton, C. , Heptinstall, L. , et al. Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS). Nucleic Acids Res 17:2503–2516, 1989. Nickerson, D. , Taylor, S. , Weiss, K. , et al. 7-kb region of the human lipoprotein lipase gene [see comments]. Nat Genet 19:233– 240, 1998.

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