Background and Aims: The aim of this study was to assess the association between the L- selectin Phe206Leu polymorphism and coronary artery disease. Methods: A total of 322 patients(221 men and 101 women) with coronar...Background and Aims: The aim of this study was to assess the association between the L- selectin Phe206Leu polymorphism and coronary artery disease. Methods: A total of 322 patients(221 men and 101 women) with coronary artery disease in one or more vessels documented by angiography were studied; 157 subjects(85 men and 72 women) without atherosclerosis were included as controls. All subjects were genotyped for the L- selectin Phe206Leu gene polymorphism using polymerase chain reaction with sequence- specific primer(PCR- SSP). To assess disease severity, all patients were classified by numbers of coronary arteries with 50% stenosis. Results: A significantly increased frequency of the 206Leu mutant allele was observed in patients with coronary artery disease compared to the controls. The 206Leu allele frequency occurred in 42% of the patients with coronary artery disease compared to 30% of the controls(p< 0.009). No association was found between the severity of coronary artery disease and the L- selectin Phe206Leu polymorphism. Conclusion: Our findings suggest that carriage of L- selectin 206Leu mutant allele could contribute to susceptibility of Iranian individuals to contracting coronary artery disease.展开更多
Epidermolysis bullosa simplex (EBS) is a mechano-bullous disorder characterized by intraepidermal blistering within the basal keratinocytes as a result of trauma to the skin. As part of the DNA diagnostics program, ou...Epidermolysis bullosa simplex (EBS) is a mechano-bullous disorder characterized by intraepidermal blistering within the basal keratinocytes as a result of trauma to the skin. As part of the DNA diagnostics program, our laboratory has analyzed a cohort of 57 patients with the initial referral diagnosis of EBS. Among these patients, 18 were found to harbor heterozygous mutations in the keratin 5 or keratin 14 genes, KRT5 and KRT14, respectively, whereas in 14 cases, the disease was associated with mutations in both alleles of the plectin gene. Among the keratin mutations, 12 were distinct and six were novel, and in most cases there was no family history of a blistering disease. Prenatal diagnosis of eight pregnancies with keratin gene mutations, at risk for EBS either because one of the parents was affected (three cases) or history of a previously affected child as a result of a de novo mutation (five cases), predicted two fetuses being affected and six being normal. No recurrence of the de novo mutations in these pregnancies was disclosed. Collectively, the data suggest that a significant number of cases diagnosed as EBS are due to plectin mutations, and many cases result from de novo mutations in KRT5 and KRT14 genes. These findings have implications for genetic counseling and prenatal diagnosis for EBS.展开更多
An association between mutations in the glucocerebrosidase (GBA) gene and Parkinson disease (PD) was recently reported in Ashkenazi Jews. The authors screened a series of 311 Norwegian patients with PD and 474 control...An association between mutations in the glucocerebrosidase (GBA) gene and Parkinson disease (PD) was recently reported in Ashkenazi Jews. The authors screened a series of 311 Norwegian patients with PD and 474 controls for 2 common functional mutations of the GBA protein, N370S and L444P. Seven patients (2.3%) and 8 controls (1.7%) carried a mutant GBA allele (p = 0.58). This study does not indicate increased susceptibility to PD in GBA mutations carriers in Norway.展开更多
文摘Background and Aims: The aim of this study was to assess the association between the L- selectin Phe206Leu polymorphism and coronary artery disease. Methods: A total of 322 patients(221 men and 101 women) with coronary artery disease in one or more vessels documented by angiography were studied; 157 subjects(85 men and 72 women) without atherosclerosis were included as controls. All subjects were genotyped for the L- selectin Phe206Leu gene polymorphism using polymerase chain reaction with sequence- specific primer(PCR- SSP). To assess disease severity, all patients were classified by numbers of coronary arteries with 50% stenosis. Results: A significantly increased frequency of the 206Leu mutant allele was observed in patients with coronary artery disease compared to the controls. The 206Leu allele frequency occurred in 42% of the patients with coronary artery disease compared to 30% of the controls(p< 0.009). No association was found between the severity of coronary artery disease and the L- selectin Phe206Leu polymorphism. Conclusion: Our findings suggest that carriage of L- selectin 206Leu mutant allele could contribute to susceptibility of Iranian individuals to contracting coronary artery disease.
文摘Epidermolysis bullosa simplex (EBS) is a mechano-bullous disorder characterized by intraepidermal blistering within the basal keratinocytes as a result of trauma to the skin. As part of the DNA diagnostics program, our laboratory has analyzed a cohort of 57 patients with the initial referral diagnosis of EBS. Among these patients, 18 were found to harbor heterozygous mutations in the keratin 5 or keratin 14 genes, KRT5 and KRT14, respectively, whereas in 14 cases, the disease was associated with mutations in both alleles of the plectin gene. Among the keratin mutations, 12 were distinct and six were novel, and in most cases there was no family history of a blistering disease. Prenatal diagnosis of eight pregnancies with keratin gene mutations, at risk for EBS either because one of the parents was affected (three cases) or history of a previously affected child as a result of a de novo mutation (five cases), predicted two fetuses being affected and six being normal. No recurrence of the de novo mutations in these pregnancies was disclosed. Collectively, the data suggest that a significant number of cases diagnosed as EBS are due to plectin mutations, and many cases result from de novo mutations in KRT5 and KRT14 genes. These findings have implications for genetic counseling and prenatal diagnosis for EBS.
文摘An association between mutations in the glucocerebrosidase (GBA) gene and Parkinson disease (PD) was recently reported in Ashkenazi Jews. The authors screened a series of 311 Norwegian patients with PD and 474 controls for 2 common functional mutations of the GBA protein, N370S and L444P. Seven patients (2.3%) and 8 controls (1.7%) carried a mutant GBA allele (p = 0.58). This study does not indicate increased susceptibility to PD in GBA mutations carriers in Norway.
