CAJ | 학술논문

目的探讨Peutz-Jeghers 综合征(PJS)患者STK11基因突变情况,为该病的基凶诊断与遗传咨询提供分子生物学依据.方法提取PJS家系成员(包括1例女性PJS患者及其双亲和妹妹)和100例正常对照外周血白细胞基因组DNA,PCR扩增STK11基因的全部外显子并行DNA测序.结果检测到患者STK11基因中第1外显子217位碱基发生T→A的杂合突变,导致编码蛋白73位的半胱氨酸被色氨酸替代,患者父母及与家系无血缘关系的100名正常对照均未发现此突变.提示C73S为一种新生种系突,变.结论 STK11基凶C73S新生错义突变是导致该例PJS患者的特异突变.
목적 탐토Peutz-Jeghers 종합정(PJS)환자STK11기인돌변정황,위해병적기흉진단여유전자순제공분자생물학의거.방법 제취PJS가계성원(포괄1례녀성PJS환자급기쌍친화매매)화100례정상대조외주혈백세포기인조DNA,PCR확증STK11기인적전부외현자병행DNA측서.결과 검측도환자STK11기인중제1외현자217위감기발생T→A적잡합돌변,도치편마단백73위적반광안산피색안산체대,환자부모급여가계무혈연관계적100명정상대조균미발현차돌변.제시C73S위일충신생충계돌,변.결론 STK11기흉C73S신생착의돌변시도치해례PJS환자적특이돌변.
Objective To analyze the STK11 gene mutation in a sporadic Chinese Datient with Peutz Jeghers syndrome(PJS)so as to provide a basis for the genetic diagnosis and counseling of PJS.Methods Whole blood samples were obtained from a female patient with PJS,her parents and sister.as well as from 100 unrelated,normal individuals as control.Genomic DNA was extracted,and the whole coding region of STK11 gene was amplified by PCR followed by direct sequencing.Results Molecular analysis revealed a novel het-erozygous mutation C73S in the patient,which resulted from the substitution of thymine(T)for adenine(A) at codon 217 in exon 1 of STK11 gene.However, the novel mutation was not found in unaffected family mem-bers or unrelated controls.Conclusion A novel missense mutation C73S,which may contribute to the devel-opment of PJS,is found in the patient.