聚合酶链反应限制性片段长度多态性检测雌激素受体基因型

Estrogen receptor genotype determi ned by polymerase chain reaction-re striction fragment length polymorp hism

目的建立一种简便、实用、准确的人雌激素受体(ER)基因型的检测方法以利于了解基因对骨量变异的调节。方法采用聚合酶链反应限制性片段长度多态性(PCR-RFLP)来扩增ER基因序列,用限制性内切酶PvuII对223例健康妇女和49例男性的ER基因扩增产物酶切,测定ER基因限制性片段长度多态性(RFLP)。结果汉族妇女ER基因pp、Pp、PP基因型频率分列为0.33、0.47和0.202;男性分别为0.429、0.469和0.102。结论该方法简便、准确、重复性好,适用于常规实验。ER基因(PvuII)多态性分布有一定的种族差异性。

Objective To establish a simple,practical and accurate method for testing estrogen receptor(ER)genotype used in variation for genetic regulation of bone mass.Methods The ER gene sequences were amplified by polymerase chain reaction(PCR),PCR products of223healthy women and 49men were dige sted with PvuII.The genotypes of the restriction fragment length polymo rphism(RFLP)of ER gene were detected.Results The frequency of genotype of ER gene were pp 0.33,Pp 0.47and PP 0.202in wom en and pp 0.429,Pp 0.469,PP0.102in men.Conclusions PCR-RFLP method is a simple and precise technique for obtaining accurate results.It is sutable for routine laboratories.The polymorphism of ER gene(PvuII)there was some difference in differe nt nationalities.