Genetic variation at 5 new autosomal short tandem repeat markers (D10S1248, D22S1045, D2S441, D1S1656, D12S391) in a population-based sample from Maghreb region
- How Many Genetic Variants Remain to Be Discovered? Pawitan, Yudi; Ku Chee Seng; Magnusson, Patrik K. E. // PLoS ONE;2009, Vol. 4 Issue 12, p1
A great majority of genetic markers discovered in recent genome-wide association studies have small effect sizes, and they explain only a small fraction of the genetic contribution to the diseases. How many more variants can we expect to discover and what study sizes are needed? We derive the...
- Effect of intragenic variability at 3 polymorphic sites of the apolipoprotein B gene on serum... Choong, M.L.; Sethi, S.K. // Human Biology;Jun99, Vol. 71 Issue 3, p381
Determines the distribution of allelic frequency of the restriction fragment length of polymorphism in the apolipoprotein B gene among healthy and hyperlipemic multi-ethnic Asian populations. Variation of three polymorphic sites in lipid level and genotype frequencies among the control and...
- Variation of 4 short tandem repeat loci in 8 population groups of India. Mukherjee, Namita; Majumder, Partha P. // Human Biology;Jun99, Vol. 71 Issue 3, p439
Determines the nature and extent of variation at the four short tandem repeat (STR) loci from eight population groups of India. Differences in the frequencies among the groups; Nature of genomic affinities based on the four STR loci.
- Pattern of gene flow inferred from genetic distances in the Mediterranean region. Simoni, Lucia; Gueresi, Paola // Human Biology;Jun99, Vol. 71 Issue 3, p399
Analyzes the data set of ten allele frequencies in 39 populations of the Mediterranean region. Spatial patterns of allele frequencies using spatial autocorrelation analysis; Location of areas of sharpest genetic differentiation of boundaries using algorithms.
- Conserved regulatory motifs at phenylethanolamine N-methyltransferase ( PNMT) are disrupted by common functional genetic variation: an integrated computational/experimental approach. Rodr�guez-Flores, Juan L.; Kuixing Zhang; Sun Woo Kang; Gen Wen; Ghosh, Sajalendu; Friese, Ryan S.; Mahata, Sushil K.; Subramaniam, Shankar; Hamilton, Bruce A.; O'Connor, Daniel T. // Mammalian Genome;Apr2010, Vol. 21 Issue 3/4, p195
The adrenomedullary hormone epinephrine transduces environmental stressors into cardiovascular events (tachycardia and hypertension). Although the epinephrine biosynthetic enzyme PNMT genetic locus displays both linkage and association to such traits, genetic variation underlying these...
- Family-based association study of IGF1 microsatellites and height, weight, and body mass index. Fehringer, Gordon; Ozcelik, Hilmi; Knight, Julia A.; Paterson, Andrew D.; Dite, Gillian S.; Giles, Graham G.; Southey, Melissa C.; Andrulis, Irene L.; Hopper, John L.; Boyd, Norman F. // Journal of Human Genetics;Apr2010, Vol. 55 Issue 4, p255
Height, weight, and body mass index (BMI) are partly heritable, known to be associated with chronic diseases, and are linked to circulating insulin-like growth factor I (IGF-I) concentrations. IGF-I concentrations are also partly heritable and thus genetic variation at IGF1 could influence...
- Thiopurine methyltransferase alleles in British and Ghanaian populations. Ameyaw, Margaret-Mary; Collie-Duguid, Elaina S. R.; Powrie, Robert H.; Ofori-Adjei, David; McLeod, Howard L. // Human Molecular Genetics;Feb99, Vol. 8 Issue 2, p367
Thiopurine methyltransferase (TPMT) catalyses the S-methylation of thiopurine drugs such as 6-mercapto-purine, 6-thioguanine and azathioprine. TPMT activity is inherited as an autosomal co-dominant trait, and several mutations in the TPMT gene have been identified which correlate with a low...
- Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants. Yingrui Li; Vinckenbosch, Nicolas; Geng Tian; Huerta-Sanchez, Emilia; Tao Jiang; Hui Jiang; Albrechtsen, Anders; Andersen, Gitte; Hongzhi Cao; Korneliussen, Thorfinn; Grarup, Niels; Yiran Guo; Hellman, Ines; Xin Jin; Qibin Li; Jiangtao Liu; Xiao Liu; Sparsø, Thomas; Meifang Tang; Honglong Wu // Nature Genetics;Nov2010, Vol. 42 Issue 11, p969
Targeted capture combined with massively parallel exome sequencing is a promising approach to identify genetic variants implicated in human traits. We report exome sequencing of 200 individuals from Denmark with targeted capture of 18,654 coding genes and sequence coverage of each individual...
- Human history recorded in a single genome. Jabr, Ferris // New Scientist;7/16/2011, Vol. 211 Issue 2821, p12
The article looks at research conducted by Richard Durbin and Heng Li, who are using analysis of alleles and mutation rates within human genomes to estimate population sizes in history.