Investigation of APC mutations of a patient with FAP and her family members by heterodublex analyses

Familial adenomatous polyposis coli (FAP) is an autosomal dominant disease characterised by the presence of 100 or more colorectal adenomatous polyps. Mutations in the adenomatous polyposis gene(APC) gene primarily responsible for the development of this disease. In this study, we examined one patient with FAP and 21 family members including one effected person from FAP and 20 nonsemptomatic persons. Our proband case who have a retinal lesions (congenital hypertrophy of the retinal pigment epithelium,called CHRPE) and hundreds adenomatous polyps on all colon and rectum is a 36 years old woman. We isolated DNA from pheripheral blood samples of proband and her family members by proteinaz K incubation and phenol-chloroform extraction. We studied E,D, F,and G segments of exon 15 of APC gene by heterodublex analyses (HDA). For staining, we used non-radioactive silver staining method. We determined mutation in 5 person from this family in segmentF of exon 15 of APC. Two of them were patients with FAP (one is ourproband case) and another three persons were non semptomatic family members. Result of sequencing analysis of these cases, wedetermined T deletion at position 3554 causing a frameshift mutation in APC gene

Investigation of APC mutations in a Turkish familial adenomatous polyposis family by heterodublex analysis

PURPOSE: Familial adenomatous polyposis is an autosomal dominant disease characterized by the presence of 100 or more colorectal adenomatous polyps. Mutations in the adenomatous polyposis coli gene are primarily responsible for the development of this disease. This study was designed to investigation of adenomatous polyposis coli (APC) gene mutations in members of familial adenomatous polyposis family to identify individuals at risk of the disease. METHODS: We examined one patient with familial adenomatous polyposis and 21 family members including one affected person from familial adenomatous polyposis and 20 nonsymptomatic persons. We studied E, D, F, and G segments of exon 15 of the adenomatous polyposis coli gene by heteroduplex analysis. RESULTS: We used silver staining method for staining. We found a mutation for five persons at segment F of exon 15 of the adenomatous polyposis coli gene. Two of them were affected by colorectal cancer, one of whom was the proband, and the other three were non-symptomatic family members. The pathogenetic mutation was a T deletion at codon 1172, causing a frameshift in the adenomatous polyposis coli gene, as a result of the sequencing analysis of these cases. CONCLUSIONS: Investigation of adenomatous polyposis coli gene mutations is very important for the identification of genetic susceptibility to colorectal cancer and for the definition of tumor developing at an early stage. Furthermore, the identification of this mutation for the first time in a Turkish family will be useful to foster further studies on familial adenomatous polyposis in Turkey

Validation of SATURN, a free, electronic, self‐administered cognitive screening test

BackgroundCognitive screening is limited by clinician time and variability in administration and scoring. We therefore developed Self-Administered Tasks Uncovering Risk of Neurodegeneration (SATURN), a free, public-domain, self-administered, and automatically scored cognitive screening test, and validated it on inexpensive (<$100) computer tablets.MethodsSATURN is a 30-point test including orientation, word recall, and math items adapted from the Saint Louis University Mental Status test, modified versions of the Stroop and Trails tasks, and other assessments of visuospatial function and memory. English-speaking neurology clinic patients and their partners 50 to 89 years of age were given SATURN, the Montreal Cognitive Assessment (MoCA), and a brief survey about test preferences. For patients recruited from dementia clinics (n = 23), clinical status was quantified with the Clinical Dementia Rating (CDR) scale. Care partners (n = 37) were assigned CDR = 0.ResultsSATURN and MoCA scores were highly correlated (P < .00001; r = 0.90). CDR sum-of-boxes scores were well-correlated with both tests (P < .00001) (r = -0.83 and -0.86, respectively). Statistically, neither test was superior. Most participants (83%) reported that SATURN was easy to use, and most either preferred SATURN over the MoCA (47%) or had no preference (32%).DiscussionPerformance on SATURN-a fully self-administered and freely available (https://doi.org/10.5061/dryad.02v6wwpzr) cognitive screening test-is well-correlated with MoCA and CDR scores