努南综合征家族中没有证据表明与1型或2型神经纤维瘤病基因座存在连锁关系。

No evidence for linkage to the type 1 or type 2 neurofibromatosis loci in Noonan syndrome families.

作者信息

Flintoff W F, Bahuau M, Lyonnet S, Gilgenkrantz S, Lacombe D, Marçon F, Levilliers J, Kachaner J, Munnich A, Le Merrer M

机构信息

Unité de Recherches sur les Handicaps Génétiques de l'Enfant INSERM, Paris, France.

出版信息

Am J Med Genet. 1993 Jul 1;46(6):700-5. doi: 10.1002/ajmg.1320460621.

DOI:10.1002/ajmg.1320460621

PMID:8362913

Abstract

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.

摘要

对6个患有典型努南综合征的两代家庭进行了连锁分析，以确定该综合征是否与17号染色体q臂上的1型神经纤维瘤病或22号染色体q臂上的2型神经纤维瘤病相关联。在距离1型神经纤维瘤病基因座着丝粒10厘摩至端粒15厘摩之间获得了显著为负的定位分数。在被认为是2型神经纤维瘤病所在区域内定位的一个标记上获得了显著为负的连锁对数分数。这些数据表明，努南综合征与1型或2型神经纤维瘤病均无紧密连锁关系。