中国汉族泛发性雀斑样痣一家系PTPN11致病基因突变筛查

Mutation Analysis of the PTPN11 Gene in a Generalized Lentiginosis Family of Chinese Han

目的搜集国内1家系泛发性雀斑样痣病例进行基因检测。方法提取3例泛发性雀斑样痣家系患者的外周血基因组DNA,针对PTPN11基因的外显子设计引物并扩增,以表型正常的家族成员和100例无亲缘关系的正常人作为对照,筛查基因突变位点。结果在患者PTPN11基因第8个外显子中检测到错义突变(c.907G>A,p.D303H),家系内健康对照及无亲缘关系的100例正常对照均未发现该突变。结论 PTPN11基因错义突变(c.907G>A)可能是引起该家系患者表型的原因。

Objective To investigate the in a Chinese family. Methods PTPN11 gene mutation of the generalized lentiginosis Peripheral blood was obtained from 12 members of generalized lentiginosis family, 100 healthy controls. All the exons and their flanking sequences of the PTPN11 gene were amplified by PCR followed by direct DNA se- quencing. Results A missense mutation （c. 907G 〉 A） was detected in the exon 8 of PTPN11 gene. No mutation was detected in the unaffected family members and unre- lated healthy controls. Conclusion The missense mutation c. 907G 〉 A in PTPNll gene may be responsible for the phenotype of this family.