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 very important reference on molecular and medical elements of uniparental disomy (UPD) and genomic imprinting so far. Genomic Imprinting and Uniparental Disomy in drugs beneficial properties entire overviews of a large number of genetic problems associated with UPD, with a powerful emphasis on medical effects. This e-book will supply readers with the instruments essential to determine and deal with illnesses 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 updated sensible reference may be beneficial for any scientific geneticist, genetic counselor, health care professional, or researcher encountering sufferers with such issues or learning advanced illness mechanisms.

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Additional info for Genomic Imprinting and Uniparental Disomy in Medicine: Clinical and Molecular Aspects

Example text

As has been further learned from experience in chorionic tissue studies, the meiotic origin of the trisomic line is very likely for certain chromosomes, whereas a mitotic conversion to trisomy is more commonly involved for other chromosomes. , 1997). It therefore follows that there is more risk for these latter chromosomes to be involved in UPD. At the phenotypic level intrauterine growth retardation (IUGR), IU death and other abnormalities are almost exclusively seen in cases with a meiotically determined trisomy.

The regions of homozygosity and heterozygosity are shown by different shades. In meiosis 1 errors, the centromeric areas of the missegregated chromosomes remain heterodisomic (heterozygous for polymorphic markers). In meiosis 2 errors, these areas are isodisomic (homozygous for polymorphic markers). The situation changes distal to recombination or cross-overs. In mitotic nondisjunction, the entire length of chromosomes is isodisomic. Numbers refer to polymorphic alleles of specific loci along the DNA.

Nash, W. , Chen, M. J. and Nienhuis, A. W. Chromosomal organization of the human dihydrofolate reductase genes: dispersion, selective amplification, and a novel form of polymorphism. Proc Natl Acad Sci U S A 81:5170–5174, 1984. 22 DETECTION OF UNIPARENTAL DISOMY AND IMPRINTING BY DNA ANALYSIS Antonarakis, S. , Boehm, C. , Giardina, P. J. and Kazazian, H. H. J. Nonrandom association of polymorphic restriction sites in the beta-globin gene cluster. Proc Natl Acad Sci U S A 79:137–141, 1982. ASHG=ACMG.

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