NO EVIDENCE FOR LINKAGE TO THE TYPE-1 OR TYPE-2 NEUROFIBROMATOSIS LOCI IN NOONAN SYNDROME FAMILIES

被引：18

作者：

FLINTOFF, WF

BAHUAU, M

LYONNET, S

GILGENKRANTZ, S

LACOMBE, D

MARCON, F

LEVILLIERS, J

KACHANER, J

MUNNICH, A

LEMERRER, M

机构：

[1] INSERM,UNITE RECH HANDICAPS GENET ENFANT U12,149 RUE SEVRES,F-75743 PARIS 15,FRANCE

[2] HOP ENFANTS MALAD,SERV CARDIOL,PARIS,FRANCE

[3] INST PASTEUR,UNITE MOLEC HUMAINE,F-75724 PARIS 15,FRANCE

[4] CRTS,GENET LAB,NANCY,FRANCE

[5] CHU BORDEAUX,SERV PEDIAT & GENET,BORDEAUX,FRANCE

[6] CHU NANCY BRABOIS,SERV CARDIOL INFANTILE,NANCY,FRANCE

[7] UNIV WESTERN ONTARIO,DEPT MICROBIOL & IMMUNOL,LONDON N6A 3K7,ONTARIO,CANADA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1993年 / 46卷 / 06期

关键词：

NF1; NF2; LINKAGE; CHROMOSOME; 17Q; 22Q;

D O I：

10.1002/ajmg.1320460621

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A linkage analysis has been performed on 6 two-generation families with classical Noonan syndrome to determine whether the syndrome is linked to neurofibromatosis type 1 on chromosome 17q or to neurofibromatosis type 2 on chromosome 22q. A significantly negative location score was obtained between 10 cM centromeric to and 15 cM telomeric from the neurofibromatosis type 1 locus. A significantly negative lod score was obtained with a marker mapping within the region where neurofibromatosis type 2 is thought to be located. These data indicate that Noonan syndrome is not tightly linked to either neurofibromatosis type 1 or type 2. (C) 1993 Wiley-Liss, Inc.

引用

页码：700 / 705

页数：6

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