C677T polymorphism in the methylenetetrahydrofolate reductase （MTHFR） gene is a risk factor for stroke, suggesting that widespread detection could help to prevent stroke. DNA from 70 stroke pa- tients and 70 healthy...C677T polymorphism in the methylenetetrahydrofolate reductase （MTHFR） gene is a risk factor for stroke, suggesting that widespread detection could help to prevent stroke. DNA from 70 stroke pa- tients and 70 healthy controls was extracted from saliva using a magnetic nanoparticles-based method and from blood using conventional methods. Real-time PCR results revealed that the C677T polymorphism was genotyped by PCR using DNA extracted from both saliva and blood samples. The genotype results were confirmed by gene sequencing, and results for saliva and blood samples were consistent. The mutation TT genotype frequency was significantly higher in the stroke group than in controls. Homocysteine levels were significantly higher than controls in both TT genotype groups. Therefore, this noninvasive magnetic nanoparticles-based method using saliva samples could be used to screen for the MTHFR C677T polymorphism in target populations.展开更多
Background:Perinatal stroke is a common cause of neurologic disability.Being clinically under-recognized,its true incidence is not known.Maternal thrombophilia is likely to be a predisposing factor.To date,a general c...Background:Perinatal stroke is a common cause of neurologic disability.Being clinically under-recognized,its true incidence is not known.Maternal thrombophilia is likely to be a predisposing factor.To date,a general consensus for evaluation of babies born to mothers with genetic thrombotic predisposition is missing.This study was undertaken to assess the frequency of cerebral abnormalities in the offspring of women with homozygous C677T mutation in the MTHFR gene,and to seek for association with additional maternal or pregnancy risk factors.Methods:Mother-infant pairs were consecutively recruited from October 2006 through February 2013.Neonates underwent a thorough physical examination at birth,and a cerebral ultrasound examination(cUS)was performed within 24 hours of their life.In neonates with major cerebral lesions,a thrombophilia panel test was obtained.Follow-up cUS was performed in babies with major or minor cerebral abnormalities.Results:Ninety-one neonates(47 males)were enrolled.By cUS,abnormalities were detected in 18(19.8%)neonates.Twelve neonates were diagnosed with a minor lesion;a major ischemic/hemorrhagic lesion was found in 6 neonates.There were a neat male preponderance and significant associations with a history of suspected miscarriage,maternal coagulation factors gene mutations,and reduced protein S or protein C activity.Conclusions:Our data confirmed a high incidence of cerebral abnormalities in neonates born to women with C677T homozygous mutation in the MTHFR gene.cUS at birth proved to be an effective screening tool or a diagnostic test,that should be routinely performed in babies born to mothers with known thrombotic predisposition.展开更多
基金supported by the Scientific and Technological Innovation Foundation of Shenzhen,China,No.JC201105180757Shenzhen Science and Technology Projects,No.201002063
文摘C677T polymorphism in the methylenetetrahydrofolate reductase （MTHFR） gene is a risk factor for stroke, suggesting that widespread detection could help to prevent stroke. DNA from 70 stroke pa- tients and 70 healthy controls was extracted from saliva using a magnetic nanoparticles-based method and from blood using conventional methods. Real-time PCR results revealed that the C677T polymorphism was genotyped by PCR using DNA extracted from both saliva and blood samples. The genotype results were confirmed by gene sequencing, and results for saliva and blood samples were consistent. The mutation TT genotype frequency was significantly higher in the stroke group than in controls. Homocysteine levels were significantly higher than controls in both TT genotype groups. Therefore, this noninvasive magnetic nanoparticles-based method using saliva samples could be used to screen for the MTHFR C677T polymorphism in target populations.
文摘Background:Perinatal stroke is a common cause of neurologic disability.Being clinically under-recognized,its true incidence is not known.Maternal thrombophilia is likely to be a predisposing factor.To date,a general consensus for evaluation of babies born to mothers with genetic thrombotic predisposition is missing.This study was undertaken to assess the frequency of cerebral abnormalities in the offspring of women with homozygous C677T mutation in the MTHFR gene,and to seek for association with additional maternal or pregnancy risk factors.Methods:Mother-infant pairs were consecutively recruited from October 2006 through February 2013.Neonates underwent a thorough physical examination at birth,and a cerebral ultrasound examination(cUS)was performed within 24 hours of their life.In neonates with major cerebral lesions,a thrombophilia panel test was obtained.Follow-up cUS was performed in babies with major or minor cerebral abnormalities.Results:Ninety-one neonates(47 males)were enrolled.By cUS,abnormalities were detected in 18(19.8%)neonates.Twelve neonates were diagnosed with a minor lesion;a major ischemic/hemorrhagic lesion was found in 6 neonates.There were a neat male preponderance and significant associations with a history of suspected miscarriage,maternal coagulation factors gene mutations,and reduced protein S or protein C activity.Conclusions:Our data confirmed a high incidence of cerebral abnormalities in neonates born to women with C677T homozygous mutation in the MTHFR gene.cUS at birth proved to be an effective screening tool or a diagnostic test,that should be routinely performed in babies born to mothers with known thrombotic predisposition.
