1.Study on the correlation between MTHFR gene polymorphism and unexplained recurrent spontaneous abortion
Zhifen HUA ; Caimei HUANG ; Yanqiang LU ; Ying LI ; Bo GONG ; Qi YANG
International Journal of Laboratory Medicine 2017;38(1):16-17
Objective To discuss the correlation between MTHFR gene polymorphism and unexplained recurrent spontaneous abortion.Methods A case control study was used in this study,140 patients with unexplained recurrent spontaneous abortion(UR-SA) (abortion group)and 143 cases of normal women(control group)were recruited.Genomic DNA was obtained and extracted from the oral mucosa cells.Fluorescence quantitative PCR was used to examine the MTHFR gene polymorphisms,and Taqman-MGB technology was conducted to analysis the relationship between single nucleotide polymorphism and disease.Results There was statistically significant difference in the frequencies of C677T genotype and alleles between the two groups(P<0.05).However,no significant difference in the frequencies of A1298C genotype and alleles between the two groups(P>0.05).Conclusion MTHFR gene C677T polymorphism might be one of the genetic risk factors of URSA.
2.Transcranial sonography in patients with Parkinson disease and Alzheimer disease
Zhifen DONG ; Yingchun ZHANG ; Yujing SHENG ; Caishan WANG ; Ying ZHANG ; Hua HU ; Weifeng LUO ; Chunfeng LIU
Chinese Journal of Medical Imaging Technology 2017;33(4):514-517
Objective To assess the features of transcranial sonography (TCS) in Parkinson disease (PD) and Alzheimer disease (AD).Methods Totally 38 PD patients (PD group),28 AD patients (AD group) and 26 controls (control group)underwent TCS.The echogenicity of the substantia nigra,widths of third ventricle and parameters of middle cerebral artery among the three groups were analyzed.Results The ratio of hyperechogenicity of substantia nigra in PD group (31/38,81.58%) were higher than those in AD group (8/28,28.57%) and control group (3/26,11.54%;x2 =18.74,30.41,both P<0.001),and there was no significant difference in hyperechogenicity of substantia nigra between AD group and control group (x2 =2.41,P=0.120).The widths of third ventricle in AD group ([0.82±0.14]cm) were wider than those in PD group ([0.63±±0.16]cm) and control group ([0.56±0.16]cm,both P<0.001),and there was no significant difference in widths of third ventricle between PD group and control group (P=0.098).The mean velocities in bilateral middle cerebral artery in AD group were lower than that of in PD group and in control group (all P<0.05).The pulsatility index in right middle cerebral artery in AD group were greater than that in PD group and control group (both P<0.05).Conclusion According to the changes of echogenicity of substantia nigra,widths of third ventricle and parameters of middle cerebral artery,TCS may provide some useful information for diagnosis of PD and AD.