DIFFERENCE IN METHYLATION PATTERNS WITHIN THE D15S9 REGION OF CHROMOSOME 15Q11-13 IN 1ST COUSINS WITH ANGELMAN SYNDROME AND PRADER-WILLI-SYNDROME

被引：26
|
作者：
CLAYTONSMITH, J
DRISCOLL, DJ
WATERS, MF
WEBB, T
ANDREWS, T
MALCOLM, S
PEMBREY, ME
NICHOLLS, RD
机构：
[1] UNIV GAINESVILLE,DEPT NEUROSCI,LONDON,ENGLAND
[2] UNIV GAINESVILLE,DIV GENET,LONDON,ENGLAND
[3] UNIV BIRMINGHAM,BIRMINGHAM MATERN HOSP,DEPT CLIN GENET,BIRMINGHAM,ENGLAND
[4] INST CHILD HLTH,LONDON WC1N 1EH,ENGLAND
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS | 1993年 / 47卷 / 05期
关键词：
ANGELMAN SYNDROME; PRADER-WILLI SYNDROME; GENOMIC IMPRINTING; METHYLATION; CHROMOSOME-15;
D O I：
10.1002/ajmg.1320470519
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Abnormalities of chromosome region 15q11-13 are associated with Angelman syndrome (AS) and Prader-Willi syndrome (PWS). Differences between the methylation patterns of the region of chromosome 15q11-13 which hybridizes to the highly conserved DNA, DN34, in normal individuals and in patients with AS and PWS have been described. We report on a family in which first cousins are affected by AS and PWS as a result of a familial paracentric inversion of 15q11-q13. The results of the studies on this family demonstrate the differences in the methylation patterns in the 2 conditions and the phenomenon of genomic imprinting, whereby genetic information is expressed differently dependent on the parent of origin. (C) 1993 Wiley-Liss, Inc.
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收藏
页码：683 / 686
页数：4
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