Sökning: "duplication and amplification"

Visar resultat 1 - 5 av 11 avhandlingar innehållade orden duplication and amplification.

1. 1. The Human Y chromosome and its role in the developing male nervous system

   Författare :Martin M. Johansson; David Skuse; Uppsala universitet; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; MSY; sex differences; CNV; SNP; palindrome; palindromes; gr gr duplication; gr gr deletion; b2 b3 deletion; b2 b3 duplication; blue-grey duplication; blue-grey like duplication; IR2; U3; STS; AZFa; AZFb; AZFc; Olivary nucleus; Medulla oblongata; spinal cord; white matter; Affymetrix 6.0; embryo; embryonal; haplogroup; haplogroups; R1a; R1b; R-M207; E-M96; I-M170; J-M304; G-M201; Ashkenazi; Bolivian; Chinese; SNP array; padlock probing; AMY-tree; Biologi med inriktning mot zoologisk utvecklingsbiologi; Biology with specialization in Animal Development;

   Sammanfattning : Recent research demonstrated that besides a role in sex determination and male fertility, the Y chromosome is involved in additional functions including prostate cancer, sex-specific effects on the brain and behaviour, graft-versus-host disease, nociception, aggression and autoimmune diseases. The results presented in this thesis include an analysis of sex-biased genes encoded on the X and Y chromosomes of rodents. LÄS MER

3. 2. Pharmacokinetic consequences of CYP2D6 genotypes with emphasis on gene duplication / amplification

   Författare :Per Dalén; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :Drug metabolism; CYP2D6. debrisoquine; nortriptyline; quinidine; genotype; phenotype; cytochrome P450; gene duplication; gene amplification;

   Sammanfattning : The relationship between the major Caucasian and Oriental CYP2D6 genotypes and the disposition of two CYP2D6 substrates nortriptyline and debrisoquine was investigated. Caucasians with 0, 1, 2, 3/4 and 13 functional CYP2D6-genes as well as Chinese and Korean subjects homo- and heterozygous for the CYP2D6*1 and CYP2D6*10 alleles were included. LÄS MER

4. 3. Deciphering molecular mechanisms in the evolution of new functions

   Författare :Hind Abdalaal; Joakim Näsvall; Paul Rainey; Uppsala universitet; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Evolvability; functional trade-offs; collateral toxicity; duplication and amplification; Biologi med inriktning mot mikrobiologi; Biology with specialization in Microbiology; Biologi med inriktning mot molekylär evolution; Biology with specialization in Molecular Evolution;

   Sammanfattning : The evolution of new genes and functions is considered to be a major contributor to biological diversity in organisms. Through de novo origination, “duplication and divergence”, and horizontal gene transfer, organisms can acquire new genetic material that can evolve to perform novel functions. LÄS MER

5. 4. Dynamics of Microbial Genome Evolution

   Författare :Sean Hooper; Guy Perriére; Uppsala universitet; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Bioinformatics; Bioinformatik; Bioinformatics; Bioinformatik; molekylärbiologi; Molecular Biology;

   Sammanfattning : The success of microbial life on Earth can be attributed not only to environmental factors, but also to the surprising hardiness, adaptability and flexibility of the microbes themselves. They are able to quickly adapt to new niches or circumstances through gene evolution and also by sheer strength of numbers, where statistics favor otherwise rare events. LÄS MER

7. 5. Extracting Genomic Variations using Selector Technology

   Författare :Magnus Isaksson; Mats Nilsson; Radoje Drmanac; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Selector; Selector probe; Genetic variation; Resequencing; Targeted sequencing; copy-number variations; MLGA; Bioinformatics; Next generation sequencing; NGS; Amplified single molecule; ASM; Molecular medicine genetics and pathology ; Molekylär medicin genetik och patologi ; Genetics; Genetik; Molekylär medicin; Molecular Medicine;

   Sammanfattning : This thesis describes the development and use of a new class of molecular tools called Selector probes, and its potential for investigations of genetic variation. The Selector technology provides multiplex amplification of targeted DNA sequences with a high specificity, and an enrichment factor in the same order of magnitude as PCR. LÄS MER