Ainsworth P J, Rodenhiser D I, Costa M T
Department of Paediatrics, Children's Hospital of Western Ontario, London, Canada.
Hum Genet. 1993 Mar;91(2):151-6. doi: 10.1007/BF00222716.
Neurofibromatosis type 1 (NF1) is one of the most common genetic disorders in humans, and presents with a variety of clinical symptoms, which are highly variable in expression. The mutation rate for NF1 is high, with as many as half of all cases resulting from new mutations. Although the NF1 gene has been cloned and its cDNA sequence determined, the specific role of the NF1 gene product in contributing to the NF1 mutations is one of the first steps in correlating genotype with clinical symptoms of the disease. In this paper we describe two independent mutations in exon 31 of the NF1 gene identified following polymerase chain reaction (PCR) amplification, heteroduplexing, and single strand conformational polymorphism (SSCP) analysis. One is a novel insertion that segregates with the disease phenotype in that particular family (5852insTT), while the other is a further example of the sporadic, recurrent C-->T mutation previously described in the literature (C5842T). The relationship between these mutations and clinical features of NF1 presented by the patients will be discussed.
1型神经纤维瘤病（NF1）是人类最常见的遗传性疾病之一，具有多种临床症状，其表现高度可变。NF1的突变率很高，所有病例中多达一半是由新突变引起的。尽管NF1基因已被克隆且其cDNA序列已确定，但NF1基因产物在导致NF1突变中的具体作用是将基因型与该疾病临床症状相关联的首要步骤之一。在本文中，我们描述了在聚合酶链反应（PCR）扩增、异源双链分析和单链构象多态性（SSCP）分析后鉴定出的NF1基因第31外显子中的两个独立突变。一个是新的插入突变（5852insTT），在该特定家族中与疾病表型共分离，而另一个是文献中先前描述的散发性、复发性C→T突变（C5842T）的又一个例子。将讨论这些突变与患者所呈现的NF1临床特征之间的关系。
