| 1. |
- Ballantyne, Kaye N., et al.
(författare)
-
Toward Male Individualization with Rapidly Mutating Y-Chromosomal Short Tandem Repeats
- 2014
-
Ingår i: Human Mutation. - : John Wiley & Sons. - 1059-7794 .- 1098-1004. ; 35:8, s. 1021-1032
-
Tidskriftsartikel (refereegranskat)abstract
- Relevant for various areas of human genetics, Y-chromosomal short tandem repeats (Y-STRs) are commonly used for testing close paternal relationships among individuals and populations, and for male lineage identification. However, even the widely used 17-loci Yfiler set cannot resolve individuals and populations completely. Here, 52 centers generated quality-controlled data of 13 rapidly mutating (RM) Y-STRs in 14,644 related and unrelated males from 111 worldwide populations. Strikingly, greater than99% of the 12,272 unrelated males were completely individualized. Haplotype diversity was extremely high (global: 0.9999985, regional: 0.99836-0.9999988). Haplotype sharing between populations was almost absent except for six (0.05%) of the 12,156 haplotypes. Haplotype sharing within populations was generally rare (0.8% nonunique haplotypes), significantly lower in urban (0.9%) than rural (2.1%) and highest in endogamous groups (14.3%). Analysis of molecular variance revealed 99.98% of variation within populations, 0.018% among populations within groups, and 0.002% among groups. Of the 2,372 newly and 156 previously typed male relative pairs, 29% were differentiated including 27% of the 2,378 father-son pairs. Relative to Yfiler, haplotype diversity was increased in 86% of the populations tested and overall male relative differentiation was raised by 23.5%. Our study demonstrates the value of RMY-STRs in identifying and separating unrelated and related males and provides a reference database.
|
|
| 2. |
- Helgadottir, Anna, et al.
(författare)
-
Apolipoprotein(a) Genetic Sequence Variants Associated With Systemic Atherosclerosis and Coronary Atherosclerotic Burden But Not With Venous Thromboembolism
- 2012
-
Ingår i: Journal of the American College of Cardiology. - : Elsevier BV. - 0735-1097 .- 1558-3597. ; 60:8, s. 722-729
-
Tidskriftsartikel (refereegranskat)abstract
- Objectives The purpose of this study is investigate the effects of variants in the apolipoprotein(a) gene (LPA) on vascular diseases with different atherosclerotic and thrombotic components. Background It is unclear whether the LPA variants rs10455872 and rs3798220, which correlate with lipoprotein(a) levels and coronary artery disease (CAD), confer susceptibility predominantly via atherosclerosis or thrombosis. Methods The 2 LPA variants were combined and examined as LPA scores for the association with ischemic stroke (and TOAST [Trial of Org 10172 in Acute Stroke Treatment] subtypes) (effective sample size [n(e)] = 9,396); peripheral arterial disease (n(e) = 5,215); abdominal aortic aneurysm (ne = 4,572); venous thromboembolism (ne = 4,607); intracranial aneurysm (ne = 1,328); CAD (n(e) = 12,716), carotid intima-media thickness (n = 3,714), and angiographic CAD severity (n = 5,588). Results LPA score was associated with ischemic stroke subtype large artery atherosclerosis (odds ratio [OR]: 1.27; p = 6.7 X 10(-4)), peripheral artery disease (OR: 1.47; p = 2.9 x 10(-14)), and abdominal aortic aneurysm (OR: 1.23; p = 6.0 x 10(-5)), but not with the ischemic stroke subtypes cardioembolism (OR: 1.03; p = 0.69) or small vessel disease (OR: 1.06; p = 0.52). Although the LPA variants were not associated with carotid intima-media thickness, they were associated with the number of obstructed coronary vessels (p = 4.8 x 10(-12)). Furthermore, CAD cases carrying LPA risk variants had increased susceptibility to atherosclerotic manifestations outside of the coronary tree (OR: 1.26; p = 0.0010) and had earlier onset of CAD (-1.58 years/allele; p = 8.2 x 10(-8)) than CAD cases not carrying the risk variants. There was no association of LPA score with venous thromboembolism (OR: 0.97; p = 0.63) or intracranial aneurysm (OR: 0.85; p = 0.15). Conclusions LPA sequence variants were associated with atherosclerotic burden, but not with primarily thrombotic phenotypes. (J Am Coll Cardiol 2012; 60: 722-9) (C) 2012 by the American College of Cardiology Foundation
|
|
| 3. |
|
|
| 4. |
- Oliveira, Fernando M.V., et al.
(författare)
-
Industrial-scale steam explosion pretreatment of sugarcane straw for enzymatic hydrolysis of cellulose for production of second generation ethanol and value-added products
- 2013
-
Ingår i: Bioresource Technology. - : Elsevier. - 0960-8524 .- 1873-2976. ; 130, s. 168-173
-
Tidskriftsartikel (refereegranskat)abstract
- Steam explosion at 180, 190 and 200 °C for 15 min was applied to sugarcane straw in an industrial sugar/ethanol reactor (2.5 m3). The pretreated straw was delignificated by sodium hydroxide and hydrolyzed with cellulases, or submitted directly to enzymatic hydrolysis after the pretreatment. The pretreatments led to remarkable hemicellulose solubilization, with the maximum (92.7%) for pretreatment performed at 200 °C. Alkaline treatment of the pretreated materials led to lignin solubilization of 86.7% at 180 °C, and only to 81.3% in the material pretreated at 200 °C. All pretreatment conditions led to high hydrolysis conversion of cellulose, with the maximum (80.0%) achieved at 200 °C. Delignification increase the enzymatic conversion (from 58.8% in the cellulignin to 85.1% in the delignificated pulp) of the material pretreated at 180 °C, but for the material pretreated at 190 °C, the improvement was less remarkable, while for the pretreated at 200 °C the hydrolysis conversion decreased after the alkaline treatment.
|
|
| 5. |
- Rocha, George J. M., et al.
(författare)
-
Effect of Xylan and Lignin Removal by Hydrothermal Pretreatment on Enzymatic Conversion of Sugarcane Bagasse Cellulose for Second Generation Ethanol Production
- 2013
-
Ingår i: Sugar Tech. - : Springer Science and Business Media LLC. - 0974-0740 .- 0972-1525. ; 15:4, s. 390-398
-
Tidskriftsartikel (refereegranskat)abstract
- This work was aimed to evaluate the effect of the removal of hemicellulose and lignin, by hydrothermal pretreatment, carried out at four different temperatures, namely 180, 185, 190 and 195 °C, for 10 min in a 20-L reactor, and alkaline delignification with 1.0 % (w/v) NaOH, at 100 °C for 1 h, on the enzymatic saccharification of sugarcane bagasse cellulose. For the material pretreated under the most severe conditions (1.0 % (w/v) NaOH, 100 °C, 1 h and 195 °C, 10 min), 95.8 % of the hemicellulosic fraction and 80.9 % of lignin were solubilised upon pretreatment and delignification respectively. The enzymatic conversion of the material obtained under those conditions reached 89.2 % of the initial cellulose, whereas it was 69.2 % for the pretreated but non-delignified material and only 6.0 % for raw bagasse. Models describing the effect of hemicellulose and lignin content on the enzymatic hydrolysis were developed. The statistical analysis of the results emphasized the significance of removal of the hemicellulose and lignin for improving the enzymatic hydrolysis of cellulose.
|
|
| 6. |
|
|
| 7. |
|
|
