A 28-kb deletion spanning D15S63 (PW71) in five families:: A rare neutral variant?

被引：6

作者：

Buiting, K

Dittrich, B

Dworniczak, B

Lerer, I

Abeliovich, D

Cottrell, S

Temple, IK

Harvey, JF

Lich, C

Gross, S

Horsthemke, B

机构：

[1] Univ Essen Gesamthsch Klinikum, Inst Humangenet, D-45122 Essen, Germany

[2] Univ Munster, Inst Humangenet, D-4400 Munster, Germany

[3] Hadassah Univ Hosp Kiryat Hadassah, Jerusalem, Israel

[4] Univ London, Inst Child Hlth, London WC1N 1EH, England

[5] Southampton Univ Hosp NHS Trust, Wessex Clin Genet Serv, Southampton, Hants, England

[6] Salisbury Hlth Care NHS Trust, Wessex Reg Genet Lab, Salisbury, Wilts, England

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 1999年 / 65卷 / 06期

关键词：

D O I：

10.1086/302670

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Methylation analysis with probe PW71 (D15S63) is an established procedure to test patients suspected of having Prader-Willi syndrome or Angelman syndrome. Using this test, we have identified a 28-kb deletion spanning D15S63 in five independent families. Sequence analysis revealed identical breakpoints in all the families. The haplotype data are compatible with a common ancestral origin of the deletion in at least two families. The deletion was not found in 1,000 unrelated controls. Although the deletion maps within the imprinting-center region, neither maternal nor paternal inheritance of the deletion appears to affect imprinting in proximal 15q. We conclude that the deletion is a rare neutral variant that can lead to false-positive results in the PW71-methylation test.

引用

页码：1588 / 1594

页数：7

共 22 条

[1]

Buchholz T, 1997, AM J MED GENET, V72, P117

[2] Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome:: Implications for imprint-switch models, genetic counseling, and prenatal diagnosis [J].

Buiting, K ;

Dittrich, B ;

Gross, S ;

Lich, C ;

Färber, C ;

Buchholz, T ;

Smith, E ;

Reis, A ;

Bürger, J ;

Nöthen, MM ;

Barth-Witte, U ;

Janssen, B ;

Abeliovich, D ;

Lerer, I ;

van den Ouweland, AMW ;

Halley, DJJ ;

Schrander-Stumpel, C ;

Smeets, H ;

Meinecke, P ;

Malcolm, S ;

Gardner, A ;

Lalande, M ;

Nicholls, RD ;

Friend, K ;

Schulze, A ;

Matthijs, G ;

Kokkonen, H ;

Hilbert, P ;

Van Maldergem, L ;

Glover, G ;

Carbonell, P ;

Willems, P ;

Gillessen-Kaesbach, G ;

Horsthemke, B .

AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 63 (01) :170-180

[3] INHERITED MICRODELETIONS IN THE ANGELMAN AND PRADER-WILLI SYNDROMES DEFINE AN IMPRINTING CENTER ON HUMAN-CHROMOSOME-15 [J].

BUITING, K ;

SAITOH, S ;

GROSS, S ;

DITTRICH, B ;

SCHWARTZ, S ;

NICHOLLS, RD ;

HORSTHEMKE, B .

NATURE GENETICS, 1995, 9 (04) :395-400

[4]

Cassidy SB, 1996, AM J HUM GENET, V58, P1085

[5] A rapid, PCR based test for differential molecular diagnosis of Prader-Willi and Angelman syndromes [J].

Chotai, KA ;

Payne, SJ .

JOURNAL OF MEDICAL GENETICS, 1998, 35 (06) :472-475

[6] PW71 methylation test for Prader-Willi and Angelman syndromes [J].

Dittrich, B ;

Buiting, K ;

Horsthemke, B .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1996, 61 (02) :196-197

[7]

DITTRICH B, 1992, HUM GENET, V90, P313

[8] Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene [J].

Dittrich, B ;

Buiting, K ;

Korn, B ;

Rickard, S ;

Buxton, J ;

Saitoh, S ;

Nicholls, RD ;

Poustka, A ;

Winterpacht, A ;

Zabel, B ;

Horsthemke, B .

NATURE GENETICS, 1996, 14 (02) :163-170

[9]

DITTRICH B, 1994, HUM GENET, V94, P583

[10] The chromosome 15 imprinting centre (IC) region has undergone multiple duplication events and contains an upstream exon of SNRPN that is deleted in all Angelman syndrome patients with an IC microdeletion [J].

Färber, C ;

Dittrich, B ;

Buiting, K ;

Horsthemke, B .

HUMAN MOLECULAR GENETICS, 1999, 8 (02) :337-343

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