The Research Of Polygenic Genetic Disease Basing On Gene

Objective:To study the relativity between the polygenic genetic disease with a few of genes.Methods:1.The AT1R gene polymorphism (an A→C transversion at nucleotide position1166) were detected by the polymerase chain reaction (PCR) and the restriction fragment length polymorphism (RFLP) in 104 the EH patients and 100 the normal controls. furthermore, we measured the blood pressure,avoirdupois and height in two groups.2.We tested the mutation of GABRG2: K289M, C588T for 60 the normal controls and 65 several kinds of the idiopathic epilepsies patients by method of the polymerase chain reaction (PCR) and the restriction fragment length polymorphism (RFLP);Results:1.The frequencies of AC genotype and C1166 allele of AT1R gene of the EH patients were obviously higher than those of normal control (AC genotype:0.240vs0.005,P<0.05;C allele: 0.130vs0.0250P<0.05),There were both the significance of difference,but the frequency of AA genotype was obviously lower than the normal control group. Furthermore, we discovered infrequent CC genotype .The items of rest have no the significative difference in two groups.2.We finded that there are the mutation K289M and the single nucleotide polymorphism (SNP) C588T in the group of generalized epilepsy with febrile seizures plus(GEFS+) and childhood absence epilepsy(CAE),but there are no mutation in the case groups of rest and the control group.Conclusion:1.A1166C polymorphism of AT1R gene was positively associated with essential hypertension in Chongqing.2.The K289M mutation of the exon 8 and the C588T polymorphism of the exon 5,there are clinic significance for genetic diagnoses of the GEFS+ and CAE.