An analysis of the distribution of hetero- and isodisomic regions of chromosome 7 in five mUPD7 Silver-Russell syndrome probands
作者： S N Abu-Amero , P Stanier , K K Abu-Amero , M A Preece , E L Wakeling
DOI: 10.1136/JMG.36.6.457
关键词:
摘要: Silver-Russell syndrome (SRS) shares common features of intrauterine growth retardation (IUGR) and a number dysmorphic including lateral asymmetry in about 50% subjects. Its genetic aetiology is complex most probably heterogeneous. Approximately 7% patients with SRS have been found to maternal uniparental disomy chromosome 7 (mUPD7). Genomic DNA samples from five mUPD7 analysed for regions isodisomy using 40 polymorphic markers distributed along the length 7. No were among patients. It likely that imprinted gene(s) rather than recessive mutations cause phenotype. Heterodisomy around centromere indicated underlying meiosis I non-disjunction error these
sci-hub.st 参考文章(15)
L D Spotila, D J Prockop, L Sereda, Partial isodisomy for maternal chromosome 7 and short stature in an individual with a mutation at the COL1A2 locus. American Journal of Human Genetics. ,vol. 51, pp. 1396- 1405 ,(1992)
R Voss, E Ben-Simon, A Avital, S Godfrey, J Zlotogora, J Dagan, Y Tikochinski, J Hillel, Isodisomy of chromosome 7 in a patient with cystic fibrosis: could uniparental disomy be common in humans? American Journal of Human Genetics. ,vol. 45, pp. 373- 380 ,(1989) , 10.1016/0168-9525(89)90184-4
D H Ledbetter, A A Schinzel, A Mutirangura, W P Robinson, S Malcolm, M A Morris, F Bernasconi, S Langlois, Nondisjunction of chromosome 15: origin and recombination. American Journal of Human Genetics. ,vol. 53, pp. 740- 751 ,(1993)
D H Ledbetter, A L Beaudet, J E Spence, W E O'Brien, R G Perciaccante, G M Greig, M S Pollack, J F Hejtmancik, H F Willard, Uniparental disomy as a mechanism for human genetic disease. American Journal of Human Genetics. ,vol. 42, pp. 217- 226 ,(1988)
T. Eggermann, Hartmut A. Wollmann, Ruprecht Kuner, Katja Eggermann, Herbert Enders, Peter Kaiser, Michael B. Ranke, Molecular studies in 37 Silver-Russell syndrome patients: frequency and etiology of uniparental disomy Human Genetics. ,vol. 100, pp. 415- 419 ,(1997) , 10.1007/S004390050526
J M Tanner, H Lejarraga, N Cameron, The natural history of the Silver-Russell syndrome: a longitudinal study of thirty-nine cases. Pediatric Research. ,vol. 9, pp. 611- 623 ,(1975) , 10.1203/00006450-197508000-00001
Beth Coyle, Rebecca Coffey, John A.L. Armour, Eleanor Gausden, Ze'ev Hochberg, Ashley Grossman, Keith Britton, Marcus Pembrey, William Reardon, Richard Trembath, Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4. Nature Genetics. ,vol. 12, pp. 421- 423 ,(1996) , 10.1038/NG0496-421
L. M. Kunkel, K. D. Smith, S. H. Boyer, D. S. Borgaonkar, S. S. Wachtel, O. J. Miller, W. R. Breg, H. W. Jones, J. M. Rary, Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants. Proceedings of the National Academy of Sciences. ,vol. 74, pp. 1245- 1249 ,(1977) , 10.1073/PNAS.74.3.1245
David J. Koorey, G.Alexander Bishop, Geoffrey W. McCaughan, Allele non-amplification: a source of confusion in linkage studies employing microsatellite polymorphisms Human Molecular Genetics. ,vol. 2, pp. 289- 291 ,(1993) , 10.1093/HMG/2.3.289
S Langlois, S L Yong, R D Wilson, L C Kwong, D K Kalousek, Prenatal and postnatal growth failure associated with maternal heterodisomy for chromosome 7. Journal of Medical Genetics. ,vol. 32, pp. 871- 875 ,(1995) , 10.1136/JMG.32.11.871