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.

引用

页码：683 / 686

页数：4

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