神经纤维瘤病1型基因32、33号外显子突变的检测

目的检测中国人神经纤维瘤病１型（ＮＦ１）基因３２、３３外显子突变。方法应用聚合酶链反应－单链构象多态性（ＰＣＲＳＳＣＰ）法分析１４个ＮＦ１家系６２名成员及３０名正常对照外周血白细胞ＤＮＡ的ＮＦ１基因３２、３３号外显子。结果３个家系（２１．４％）、４例ＮＦ１患者（１１．１％）ＮＦ１基因３２号外显子的ＤＮＡＳＳＣＰ发生泳动变位，可能为ＮＦ１基因３２号外显子发生突变。家系中其他成员及正常对照无此现象。通过３种不同的ＳＳＣＰ实验条件，未发现３３号外显子异常泳动变位。结论３２号外显子可能为中国人ＮＦ１基因突变热点之一。本研究方法对ＮＦ１症状前诊断和产前诊断有重要应用价值。

A study on mutation detection on exons 32,33 of the neurofibromatosis type 1 gene

Objective To detect the mutation on exons 32,33 of Chinese the neurofibromatosis type 1 (NF1) gene. Methods The Exons 32,33 of the NF1 gene were analysed by using polymerase chain reaction single strand conformation polymorphism(PCR SSCP)technique in DNA separated from the peripheral blood of 62 members of 14 NF1 families and 30 normal controls. Results We found the mobility shift on exon 32 of NF1 in 4 patients (11.1%) from 3 families (21.4%),but none in the other members and all the normal controls. This mobility shift from DNA SSCP on exon 32 showed the mutation of NF1 gene. Using three different conditions of PCR SSCP, we had not found the mobility shift of the mutation on exon 33 of NF1 gene. Conclusion Exon 32 might be a hot spot of mutation in NF1 gene in Chinese. It was valuable for presymptomatic and antenatal diagnosis of NF1.