努南综合征与1型神经纤维瘤病基因座无连锁关系。
Absence of linkage of Noonan syndrome to the neurofibromatosis type 1 locus.
作者信息
Sharland M, Taylor R, Patton M A, Jeffery S
机构信息
South West Thames Regional Genetic Service, St George's Hospital Medical School, London.
出版信息
J Med Genet. 1992 Mar;29(3):188-90. doi: 10.1136/jmg.29.3.188.
Abstract
Eleven families with Noonan syndrome in either two or three generations have been identified. Following the reports of subjects with features of both Noonan syndrome and neurofibromatosis type 1, these pedigrees have been studied using a number of probes at the neurofibromatosis type 1 locus (17q11). A significantly negative lod score was obtained with the intragenic probe NF1-C2, suggesting that the genes for Noonan syndrome and neurofibromatosis type 1 are not contiguous.
摘要
已确定了11个患有努南综合征的家族，这些家族有两代或三代人患病。继有报道称存在同时具有努南综合征和1型神经纤维瘤病特征的患者后，利用位于1型神经纤维瘤病基因座（17q11）的多个探针，对这些家系进行了研究。使用基因内探针NF1-C2获得了显著为负的连锁分数，这表明努南综合征基因和1型神经纤维瘤病基因并不相邻。
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