Fragile X syndrome: diagnostic and carrier testing.

This guideline is designed primarily as an educational resource for medical geneticists and other health care providers to help them provide quality medical genetic services. Adherence to this guideline does not necessarily assure a successful medical outcome. This guideline should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, the geneticist should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen. It may be prudent, however, to document in the patient's record the rationale for any significant deviation from this guideline.     

A microelectrode study of the catalysis of alkyl halide reduction by Co(II)(salen)

Microelectrode voltammetry is used to investigate the mechanism for the catalysis by Co(II)(salen) of the reduction of n-butyl iodide, n-butyl bromide and 1,2-dibromobutane in DMF and the influence of electrolyte on these reactions. It is shown that when the ratio of alkyl halide to Co(II)(salen) in the solution is large, the voltammetry is quite different with each of the three alkyl halides and depends on the choice and concentration of electrolyte. The voltammetric characteristics can only be understood in terms of mechanisms which include additional steps to those proposed previously in the literature.     

Evaluating genetic markers and neurobiochemical analytes for fluoxetine response using a panel of mouse inbred strains

Rationale  

Identification of biomarkers that establish diagnosis or treatment response is critical to the advancement of research and management of patients with depression.     

Candidate Molecular Pathway Genes Related to Appetite Regulatory Neural Network,Adipocyte Homeostasis and Obesity: Results from the CARDIA Study

Appetite regulatory neural network and adipocyte homeostasis molecular pathways are critical to long‐term weight maintenance. Associations between obesity‐related phenotypes and four genes in these pathways – leptin (LEP), leptin receptor (LEPR), neuropeptide Y2 receptor (NPY2R) and peptide YY (PYY) were examined in CARDIA Study participants (aged 18–30 at recruitment in 1985–6). Weight, BMI and waist circumference were measured at baseline and at years 2, 5, 7, 10, 15, and 20. Genotyping was conducted using tag SNPs characterising common genetic variations in these genes. Generalized estimating equation (GEE) models estimated associations between SNPs and repeated anthropometric measurements, controlling for sex and age. False discovery rate was used to adjust for multiple testing. In African‐Americans, SNPs across the LEP gene demonstrated significant overall associations with all obesity‐related phenotypes. The associations between LEP rs17151919 with weight tended to strengthen with time – the difference in weight associated with each additional minor allele increased from 2.6 kg at baseline to 4.8 kg at year 20 (SNP*time interaction p = 0.0193). NPY2R gene SNPs were associated with waist circumference among African‐American men (p = 0.0462). In Caucasians, LEP SNPs also tended to be associated with weight (p = 0.0471), and PYY rs11684664 was associated with obesity‐related phenotypes in women only (p = 0.010–0.026). Several LEP, and NPY2R and PYY SNPs were associated with obesity‐related phenotypes in young adults, particularly among African‐Americans.