MOLECULAR DIAGNOSIS OF PRADER-WILLI-SYNDROME - PARENT-OF-ORIGIN DEPENDENT METHYLATION SITES AND NONISOTOPIC DETECTION OF (CA)(N) DINUCLEOTIDE REPEAT POLYMORPHISMS

被引:47
作者
LERER, I [1 ]
MEINER, V [1 ]
PASHUTLAVON, I [1 ]
ABELIOVICH, D [1 ]
机构
[1] HADASSAH UNIV HOSP,DEPT HUMAN GENET,IL-91120 JERUSALEM,ISRAEL
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 1994年 / 52卷 / 01期
关键词
PRADER-WILLI SYNDROME; DEL(15) (Q11Q13); UNIPARENTAL DISOMY; PARENT-OF-ORIGIN DEPENDENT METHYLATION SITE;
D O I
10.1002/ajmg.1320520116
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
We describe our experience in the molecular diagnosis of 22 patients suspected of Prader-Willi syndrome (PWS) using a DNA probe PW71 (D15S63) which detects a parent-of origin specific methylated site in the PWS critical region. The cause of the syndrome was determined as deletion or uniparental disomy according to the segregation of (CA), dinucleotide repeat polymorphisms of the PWS/AS region and more distal markers of chromosome 15. In 10 patients the clinical diagnosis was confirmed by this approach, 6 with paternal deletion and 4 with maternal disomy. In one patient, the aberrant methylation pattern that was detected by PW71 could not be confirmed by the segregation of (CA),, probably due to paternal microdeletion in the PWS critical region which did not include the loci D15S97, D15S113, GABRB3, and GABRA5. This case demonstrates the advantage of the DNA probe PW71 in the diagnosis of PWS. (C) 1994 Wiley-Liss, Inc.
引用
收藏
页码:79 / 84
页数:6
相关论文
共 31 条
  • [1] BUITING K, 1993, HUM MOL GENET, V2, P1991
  • [2] BUITING K, 1994, IN PRESS HUM MOL GEN
  • [3] PRADER-WILLI SYNDROME - CURRENT UNDERSTANDING OF CAUSE AND DIAGNOSIS
    BUTLER, MG
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1990, 35 (03): : 319 - 332
  • [4] CHARACTERIZATION OF A METHYLATION IMPRINT IN THE PRADER-WILLI-SYNDROME CHROMOSOME REGION
    DITTRICH, B
    BUITING, K
    GROSS, S
    HORSTHEMKE, B
    [J]. HUMAN MOLECULAR GENETICS, 1993, 2 (12) : 1995 - 1999
  • [5] DITTRICH B, 1992, HUM GENET, V90, P313
  • [6] SIMILAR MOLECULAR DELETIONS ON CHROMOSOME 15Q11.2 ARE ENCOUNTERED IN BOTH THE PRADER-WILLI AND ANGELMAN SYNDROMES
    DONLON, TA
    [J]. HUMAN GENETICS, 1988, 80 (04) : 322 - 328
  • [7] A DNA METHYLATION IMPRINT, DETERMINED BY THE SEX OF THE PARENT, DISTINGUISHES THE ANGELMAN AND PRADER-WILLI SYNDROMES
    DRISCOLL, DJ
    WATERS, MF
    WILLIAMS, CA
    ZORI, RT
    GLENN, CC
    AVIDANO, KM
    NICHOLLS, RD
    [J]. GENOMICS, 1992, 13 (04) : 917 - 924
  • [8] Glatt Karen A., 1992, Human Molecular Genetics, V1, P348, DOI 10.1093/hmg/1.5.348
  • [9] MODIFICATION OF 15Q11-Q13 DNA METHYLATION IMPRINTS IN UNIQUE ANGELMAN AND PRADER-WILLI PATIENTS
    GLENN, CC
    NICHOLLS, RD
    ROBINSON, WP
    SAITOH, S
    NIIKAWA, N
    SCHINZEL, A
    HORSTHEMKE, B
    DRISCOLL, DJ
    [J]. HUMAN MOLECULAR GENETICS, 1993, 2 (09) : 1377 - 1382
  • [10] HOLM VA, 1993, PEDIATRICS, V91, P398