Genomic imprinting and its role in Prader-Willi and Angelman syndromes

被引:0
|
作者
Mglinets, VA
Levina, LY
Konstantinova, LM
机构
来源
GENETIKA | 1996年 / 32卷 / 12期
关键词
D O I
暂无
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Published and our own data, included in the CHRODYS database, on the dependence of phenotypic abnormalities in mono-, di-, and trisomics at human chromosome 15 on its parental origin are reviewed. The concept is confirmed that Prader-Willi and Angelman syndromes result from the combined effect of gene or chromosome mutations impairing the expression of syndrome-specific genes and from genomic imprinting, i.e., repression of corresponding genes received from one of the parents.
引用
收藏
页码:1605 / 1615
页数:11
相关论文
共 50 条
  • [41] IMPRINTING MUTATIONS SUGGESTED BY ABNORMAL DNA METHYLATION PATTERNS IN FAMILIAL ANGELMAN AND PRADER-WILLI SYNDROMES
    REIS, A
    DITTRICH, B
    GREGER, V
    BUITING, K
    LALANDE, M
    GILLESSENKAESBACH, G
    ANVRET, M
    HORSTHEMKE, B
    AMERICAN JOURNAL OF HUMAN GENETICS, 1994, 54 (05) : 741 - 747
  • [42] Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes
    Ramsden, Simon C.
    Clayton-Smith, Jill
    Birch, Rachael
    Buiting, Karin
    BMC MEDICAL GENETICS, 2010, 11
  • [43] EPIGENETIC AND GENETIC ASPECTS OF THE PHENOTYPES OF PRADER-WILLI AND ANGELMAN SYNDROMES
    Fedoniuk, L. Ya
    Kovanova, E. N.
    Remynetskii, B. Ya
    Yeroshenko, G. A.
    Vatsenko, A. V.
    Perederii, N. O.
    Ulanovska-Tsiba, N. A.
    Khannanova, O. R.
    WORLD OF MEDICINE AND BIOLOGY, 2021, 75 (01): : 245 - 248
  • [44] Classical cytogenetic and FISH diagnosis of Prader-Willi and Angelman syndromes
    Cernáková, I
    Cisárik, F
    Halásová, E
    Nebesòáková, E
    EUROPEAN JOURNAL OF HUMAN GENETICS, 1998, 6 : 81 - 81
  • [45] A DNA METHYLATION IMPRINT DISTINGUISHES THE ANGELMAN AND PRADER-WILLI SYNDROMES
    DRISCOLL, DI
    WATERS, MF
    GLENN, CC
    WILLIAMS, CA
    ZORI, RT
    AVIDANO, KM
    NICHOLLS, RD
    CLINICAL RESEARCH, 1992, 40 (02): : A339 - A339
  • [46] CYTOGENETIC AND MOLECULAR STUDIES IN THE PRADER-WILLI AND ANGELMAN SYNDROMES - AN OVERVIEW
    KNOLL, JHM
    WAGSTAFF, J
    LALANDE, M
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1993, 46 (01): : 2 - &
  • [47] MOLECULAR, CLINICAL AND CYTOGENETIC STUDIES OF THE ANGELMAN AND PRADER-WILLI SYNDROMES
    DRISCOLL, DJ
    PORTER, KA
    GLENN, CC
    WILLIAMS, CA
    ZORI, R
    WHIDDEN, E
    GOTTLIEB, W
    FILBRANDT, M
    BOWERS, L
    GRAY, B
    NICHOLLS, RD
    AMERICAN JOURNAL OF HUMAN GENETICS, 1993, 53 (03) : 255 - 255
  • [48] Diagnostic testing: A cost analysis for Prader-Willi and Angelman syndromes
    Monaghan, KG
    VanDyke, DL
    Feldman, G
    Wiktor, A
    Weiss, L
    AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 60 (01) : 244 - 247
  • [49] Prader-Willi Syndrome: Obesity due to Genomic Imprinting
    Butler, Merlin G.
    CURRENT GENOMICS, 2011, 12 (03) : 204 - 215
  • [50] INHERITED MICRODELETIONS IN THE ANGELMAN AND PRADER-WILLI SYNDROMES DEFINE AN IMPRINTING CENTER ON HUMAN-CHROMOSOME-15
    BUITING, K
    SAITOH, S
    GROSS, S
    DITTRICH, B
    SCHWARTZ, S
    NICHOLLS, RD
    HORSTHEMKE, B
    NATURE GENETICS, 1995, 9 (04) : 395 - 400