神经纤维瘤病1型（NF1）基因第41和16内含子中的两个单碱基多态性

Two single base polymorphisms in introns 41 and 16 of the NF1 gene.

作者信息

Shen M H, Upadhyaya M

机构信息

Institute of Medical Genetics, College of Medicine, University of Wales, Heath Park, Cardiff, United Kingdom.

出版信息

Am J Med Genet. 1995 Apr 24;60(2):147-9. doi: 10.1002/ajmg.1320600211.

DOI:10.1002/ajmg.1320600211

PMID:7485249

Abstract

We have characterized two intragenic polymorphisms in the neurofibromatosis type 1 (NF1) gene by direct sequencing of PCR products. The variants for these polymorphisms were initially detected on Hydrolink gels. One of the polymorphisms involves a G to A transition in intron 41 at the 28th base upstream of exon 42 with an observed 'G'/'A' heterozygosity of 0.42. The other polymorphism is a T to C transition in intron 16 at the 16th base upstream of exon 17 with an observed 'T'/'C' heterozygosity of 0.09. In combination with other documented polymorphisms in the NF1 gene, these variants should assist in genetic analysis of NF1 families.

摘要

我们通过对聚合酶链反应（PCR）产物进行直接测序，对1型神经纤维瘤病（NF1）基因中的两个基因内多态性进行了特征分析。这些多态性的变体最初是在Hydrolink凝胶上检测到的。其中一个多态性涉及第42外显子上游第28个碱基处内含子41中的G到A转换，观察到的“G”/“A”杂合度为0.42。另一个多态性是第17外显子上游第16个碱基处内含子16中的T到C转换，观察到的“T”/“C”杂合度为0.09。与NF1基因中其他已记录的多态性相结合，这些变体应有助于对NF1家族进行遗传分析。