氯喹抗性相关基因pfmdrl两个突变点的初步研究

Study on Two Mutation of pfmdr1 Gene Associated with Chloroquine Resistance

目的 对氯喹抗性相关基因 pfmdrl两突变点进行研究。方法 用新颖的等位基因特异PCR和限制性酶切分析技术 (AS -PCR/RFLP)检测云南恶性疟的与氯喹抗性相关的pfmdrl基因Asn86 Tyr和Asp12 46 Tyr的突变点 ,了解其与氯喹抗性表现型的相关性。结果 在 10个氯喹抗性分离株未检测 pfmdrl基因 86位氨基酸编码子的突变 (Asn86型 ) ;而在 9个氯喹抗性分离株中检测 pfmdrl基因 86位氨基酸编码子由A变为T ,即86 Tyr型。未检测到 pfmdrl基因Asn12 46 Tyr的突变。结论 提示在云南恶性疟氯喹抗性流行区 ,氯喹抗性表现型与pfmdrl基因 86 Tyr的位点突变符合性仅 47 4% ,似无明显关系 ;而基因Asn12 46 Tyr的位点突变似乎是不存在。这支持除Asn86 Tyr突变外 。

Objective To study the two mutation of the pfmdrl gene.Method Using the novel Allele specific PCR and Restriction fragment length polymorphism(RFLP)detected mutation of the pfmdr1 Asn 86 Tyr and Asp 1246 Tyr associated with chloroquine resistance in Yunnan to explore an agreement between Chloroquine resistance phenotype and the point mutation.Results Ten chloroquine resistance isolates was not examed the point mutation of the pfmdr1 Asn 86 ,while 9 isolates were detected the point mutation(A to T) of the pfmdr1 86 Tyr .However,all samples were not examined mutation of the pfmdr1 Asp 1 246 Tyr .The incomplete agreement found between chloroquine resistance phenotype and Pfmdrl(86 Tyr ) mutation supporting the view that other genetic factors as well as pfmdr1 may be involved in chloroquine resistance.The Asp 1 246 Tyr seemed to be absent in Yunnan.