1,721,164 research outputs found
Origin and diffusion of the major CF mutation in Europe. The European Working Group on CF Genetics (EWGCFG).
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ADHD genetics: 2007 update
No full textAttention-deficit/hyperactivity disorder (ADHD) is highly heritable. Confirmed association has been reported for several candidate genes, including DAT1, DRD4, SNAP-25, DRD5, 5HTT, HTR1B, and DBH; however, these confer relatively small risk. Family-based linkage studies have identified a number of chromosomal regions containing potential ADHD predisposing loci, some overlapping in two or more studies, including 5p, 6q, 7p, 11q, 12q, and 17p. New large-scale studies that apply recent technological advances to perform high-density genotyping of the entire genome, in combination with information on the haplotype structure of the human genome, now allow testing of single-nucleotide polymorphism association with disease phenotype without any a priori hypothesis. They may contribute further to our understanding of the genetic factors involved in ADHD. The heterogeneous complex ADHD phenotype, as well as epigenetic factors may be contributing to the challenge of genetic studies. Samples that include limited age ranges may have better success at uncovering genes whose expression is limited to specific developmental stages. Copyright © 2007 by Current Medicine Group LLC
Analysis of Human Genetic Data: A Celebratory Issue of Human Heredity Honoring Dr. Jürg Ott
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Integration of Linkage Analysis and Next-Generation Sequencing Data
No full textGenetic mapping by linkage analysis has been for many years the first step in the identification of genes responsible for rare Mendelian disorders. When the focus of genetic research shifted toward the study of the more complex common disorders, alternative approaches such as association studies were shown to be more successful in identifying common variants of small effect that are in part responsible for susceptibility to such conditions. Recent advances in technologies that make feasible the sequencing of whole exomes or genomes have renewed interest in the identification of rare variants, which are in principle amenable to being detected by linkage analysis. As a result, linkage analysis and family based studies in general are being reexamined as an aid to filter and validate results of whole exome and whole genome sequencing experiments. This chapter will describe a few representative papers that have incorporated linkage analysis and its results in the design, execution, and interpretation of whole genome or whole exome sequencing studies
Analysis of delta F508 does not confirm a previously reported recombination in a cystic fibrosis family.
No full textAssociation of a polymorphic variant of the adiponectin gene with insulin resistance in African Americanss
No full textHypertension, type 2 diabetes, and obesity are common complex disorders that contribute to cardiovascular (CV) disease. Insulin resistance increases CV risk and is present in these disorders. Adiponectin, a protein secreted by adipocytes with metabolic and vascular protective effects, is lower in obesity and insulin resistance. Several single nucleotide polymorphisms (SNP) have been identified in the adiponectin (ADIPOQ) gene. Associations of ADIPOQ polymorphisms with diabetes and obesity have been described in Caucasians and Asians. The purpose of this study was to determine if genetic variants of ADIPOQ are associated with insulin resistance and CV risk in African Americans. Metabolic traits (lipids, glucose, insulin, and insulin sensitivity) and blood pressure were measured in 273 African Americans. DNA was examined by DNA sequence analysis and SNPs of candidate genes including ADIPOQ were studied. Statistical analyses were performed by regression of the quantitative trait phenotypes on the groups defined by the SNP genotypes, adjusting for age, sex, and body mass index (BMI). SNP 712 (rs3774261) of the ADIPOQ gene showed significant association with insulin resistance (p = 0.001). Despite the relatively small sample, our results indicate that genes that regulate adipocyte function may have a regulatory role in the expression of metabolic traits in obesity-associated chronic disease
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