Study On LDLR Gene 1972 T/C SNP And MTHFR Gene 677 C/T SNP

Single nucleotide polymorphism (SNP) is the molecular marker for the third generation human genome map. It means that the minor difference of two DNA sequence is made of the substitution, insertion and so on. SNP is the most popular polymorphism in human genome and has been the hot-point for development in the world. It has so many uses that it can be used as marker to trace the disease genes, support the developing new medicine, and even analyze the human history, such as migration and misscellours.Objective:The aim of this experiment is to study the frequency of the LDLR gene 1972 TIC SNP and MTHFR gene 677 CIT SNP of Han Nationality in Southern China and their relation with the hypercholesterol and preeclampsia, respectively. The LDL receptor defects cause the elevation LDLcholesterol in plasma. This is the main reason for atherosclerosis and is closely related to the risk of coronary heart disease(CHD). Now it is thought that the LDLR gene is the sensitive gene for hypercholesterol. Because the HCY caused by MTHFR defects is the main approach for injuring endothelial cell and uterine endothelial cell injury is an important hypothesis for the etiologyof pre-eclampsia, we presume that the MTHFR gene is also one of sensitive genes of pre-eclampsia.Methods:The polymerase chain reaction (PCR) was used to amplify the specific DNA fragments including the two SNP site in vitro, and then RFLP technology is used to analysis the two fragments.Results:(1)The research group has been divided into two groups. The frequency of T allele is 0.85 and C allele is 0.15 in 100 LDLR alleles in healthy controls. The frequency of T allele is 0.83 and C allele is 0.17 in 100 LDLR alleles in hypercholesterolemia patients.(2)MTHFR 677 SNP The frequency of T allele is 0.315 and C allele is 0.6853in 92 MTHFR aIleles in heaIthy controIS. The fF6quenCy Of T aIleIe is 0.324and C aIIele is 0.676 in 78 MTHFR aIIeIes in pre-ecIampsia patients.ConcIusion: Based an the resuIt, the concIusion could be made thatt(1) There is these SNPs in Southern Chinese.(2) No st8tisticaIly significant diff6rence has been fOund frOm twO groups inthe twO exP6rimentS. This shows th8t there is no association betw6enthese tWO SNPs and the diseases.(3) Due tO the suitabIe fr6quency of these twO SNPs, they can be used asgen6tic maFkers.This Study have nOt been fOund in China up to d8te.