Genomic imprinting and human hereditary disorders

被引：0
作者：
M. V. Nemtsova
机构：
[1] Russian Academy of Medical Sciences,Research Center for Medical Genetics
来源：
Molecular Biology | 2000年 / 34卷
关键词：
genomic imprinting; DNA methylation; imprinting center; uniparental disomy; gene expression/inactivation; Prader-Willi syndrome; Angelman syndrome;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
Modern data are reviewed that concern hereditary disorders caused by abnormal expression of imprinted genes rather than mutations and structural aberrations. As an example, the molecular organization of the critical chromosomal region 15(q11.2–q13) and the possible pathogenetic mechanisms are described in detail for Prader-Willi and Angelman syndromes.
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页码：554 / 560
页数：6
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共 263 条
  • [21] Egli C.A.(2000)undefined Am. J. Hum. Genet. 59 781-792
  • [22] Temple J.K.(1990)undefined Am. J. Hum. Genet. 46 857-873
  • [23] James R.S.(1997)undefined Cell 90 809-819
  • [24] Crolla J.A.(1993)undefined Nat. Genet. 4 187-190
  • [25] Robinson D.O.(1993)undefined Nature 4 191-194
  • [26] Gardner R.J.(1999)undefined Hum. Mol. Genet. 8 2387-2396
  • [27] Temple I.K.(1995)undefined Science 270 1610-1613
  • [28] Voss R.(1977)undefined Hum. Mutat. 10 155-159
  • [29] Ben-Simon E.(1992)undefined J. Med. Genet. 29 841-846
  • [30] Avital A.(1997)undefined Biol. Psychiatr. 42 760-766
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