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 91 条
[1]  
BERRY R, 1987, American Journal of Human Genetics, V41, pA114
[2]   FISH ANALYSIS IN PRADER-WILLI AND ANGELMAN SYNDROME PATIENTS [J].
BETTIO, D ;
RIZZI, N ;
GIARDINO, D ;
GRUGNI, G ;
BRISCIOLI, V ;
SELICORNI, A ;
CARNEVALE, F ;
LARIZZA, L .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1995, 56 (02) :224-228
[3]   ANGELMAN SYNDROME DUE TO PATERNAL UNIPARENTAL DISOMY OF CHROMOSOME-15 - A MILDER PHENOTYPE [J].
BOTTANI, A ;
ROBINSON, WP ;
DELOZIERBLANCHET, CD ;
ENGEL, E ;
MORRIS, MA ;
SCHMITT, B ;
THUNHOHENSTEIN, L ;
SCHINZEL, A .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1994, 51 (01) :35-40
[4]  
BROOKWELL R, 1987, CLIN GENET, V31, P311
[5]  
BUTLER MG, 1983, LANCET, V1, P1285
[6]   CLINICAL AND CYTOGENETIC SURVEY OF 39 INDIVIDUALS WITH PRADER-LABHART-WILLI SYNDROME [J].
BUTLER, MG ;
MEANEY, FJ ;
PALMER, CG .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1986, 23 (03) :793-809
[7]   HIGH-RESOLUTION CHROMOSOME ANALYSIS AND FLUORESCENCE IN-SITU HYBRIDIZATION IN PATIENTS REFERRED FOR PRADER-WILLI OR ANGELMAN SYNDROME [J].
BUTLER, MG .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1995, 56 (04) :420-422
[8]   DELETION OF CHROMOSOME-15 (Q11-13) IN A PRADER-LABHART-WILLI SYNDROME CLINIC POPULATION [J].
CASSIDY, SB ;
THULINE, HC ;
HOLM, VA .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1984, 17 (02) :485-495
[9]   GENETIC IMPRINTING IN THE MOUSE - IMPLICATIONS FOR GENE-REGULATION [J].
CATTANACH, BM ;
JONES, J .
JOURNAL OF INHERITED METABOLIC DISEASE, 1994, 17 (04) :403-420
[10]   FURTHER EVIDENCE FOR DOMINANT INHERITANCE AT THE CHROMOSOME-15Q11-13 LOCUS IN FAMILIAL ANGELMAN SYNDROME [J].
CLAYTONSMITH, J ;
WEBB, T ;
ROBB, SA ;
DIJKSTRA, I ;
WILLEMS, P ;
LAM, S ;
CHENG, XJ ;
PEMBREY, ME ;
MALCOLM, S .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1992, 44 (02) :256-260
12345678910