By Eric Engel, Stylianos E. Antonarakis
Eric Engel and Stylianos Antonarakis have written the main authoritative and very important reference on molecular and scientific elements of uniparental disomy (UPD) and genomic imprinting so far. Genomic Imprinting and Uniparental Disomy in medication beneficial properties finished overviews of a mess of genetic problems associated with UPD, with a powerful emphasis on scientific outcomes. This publication 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 good points convenient tables summarizing scientific 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 may be invaluable for any medical geneticist, genetic counselor, health professional, or researcher encountering sufferers with such problems or learning advanced illness mechanisms.
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Extra info for Genomic Imprinting and Uniparental Disomy in Medicine
Magenis, R. , et al. Angelman syndrome: three molecular classes identified with chromosome 15q11q13-specific DNA markers. Am J Hum Genet 47:149– 155, 1990. , et al. Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation. Hum Mol Genet 4:583–587, 1995. Kurnit, D. , Karp, L. and Hoehn, H. Cytogenetics of recurrent abortions [letter]. Fertil Steril 30:366–367, 1978. Lyon, M. F. and Rastan, S. Parental source of chromosome imprinting and its relevance for X chromosome inactivation.
It is also possible to detect UPD for only one segment of the chromosome and normal biparental inheritance for the remainder. In summary, the use of DNA markers allows the determination of the inheritance of specific parental alleles and the detection of the absence of parental alleles in the offspring. DETECTION OF DELETIONS BY DNA POLYMORPHISMS ANALYSIS 15 Figure 1 Schematic representation of the use of DNA polymorphisms in determining the inheritance of parental alleles. 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.
Et al. hSNF5=INI1 inactivation is mainly associated with homozygous deletions and mitotic recombinations in rhabdoid tumors. Cancer Res 59:352–3156, 1999. Sapienza, C. Genome imprinting and dominance modification. Ann N Y Acad Sci 564:24–38, 1989. 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.