Mendelian inheritance in humans. Most traits in humans are due to the interaction of multiple genes and do not show a simple Mendelian pattern of inheritance. A few traits represent single-genes. Examples include sickle-cell anemia, cystic fibrosis, Tay-Sachs disease, and Huntington’s diseaseBy mali
Bertram et al. (2005) , NEJM, 352:884-894. Bertram et al. (2005) , NEJM, 352:884-894. Bertram et al. (2005) , NEJM, 352:884-894. Bertram et al. (2005) , NEJM, 352:884-894. Ubiquilin 1 Gene (UBQLN1) Differential RNA splicing gives two different mRNA variants:. 10. 11. 11. 10. 1. 2. 3. 4.By kimberly-stephens
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Important Genetic Concepts. Gene. Allele. Genotype. Phenotype. Mutation (Chapt. 16). Classification of Mutations. Mechanisms of Mutagenesis. DNA Repair Pathways. Possible Reading Frames for RNA. A Comprehensive Catalogue of Somatic Mutations From a Cancer Genome Nature (December 2009).
Important Genetic Concepts. Genotype. Phenotype. Gene. Allele. C. N. Flow of Genetic Information. Page 353. Deoxyribonucleotide. Pg. 256. DNA Bases. Pg. 255. DNA Strand. Pg. 257. 5’. 3’. 3’. 5’. DNA Structure. Page 6. Ribonucleotide. OH. RNA Bases. Amino Acid Structure.
ALLELE FREQUENCY. HARDY - WEINBERG. A population that is not changing genetically is said to be at Hardy–Weinberg equilibrium The assumptions that underlie the Hardy–Weinberg equilibrium are population is large mating is random There is no migration (no immigration or emigration)
Supplementary Figure 1. frt. F3. frt. F3. lx5171. lxP. lxP. lx5171. E1. OPE. OPE. OPE. OPE. OPE. OPE. E2. pA. SA. b geo. pA. inversion at F3 sites. inversion at frt sites. E1. E2. pA. OPE. OPE. OPE. OPE. OPE. OPE. SA. b geo. pA. Inversion by FLP. E1. OPE. OPE.
2kb. 5’ Probe. 3’ Probe. 3’ Probe. 5’ Probe. 遺伝子名 研究室 担当. xxkb. XXkb. Wt allele. Targeting vector. Pr Neo pA. Pr DT-A pA. loxP frt frt. Targeted allele. Pr Neo pA. YYkb. yykb. Pr Neo pA.
2kb. 遺伝子名 研究室 担当. XXkb. Wt allele. 3’ Probe. 5’ Probe. Targeting vector. LacZ pA. Pr Neo. pA. Pr DT-ApA. lox71. frt. frt loxP. Targeted allele. LacZ pA. Pr Neo. pA. 3’ Probe. 5’ Probe. YYkb. LacZ pA. Pr Neo. pA.
Allele Combinations. Each parent must give 1 allele for each gene So a parent can give AB or ab etc. A parent cannot give AA or Bb. EASY way to figure out allele combinations one parent can give is FOIL. F irst O uter I nner L ast FOIL the following- AaBb.
ALLELE FREQUENCY. HARDY-WEINBERG & EVOLUTION. HARDY - WEINBERG. A population that is not changing genetically is said to be at Hardy–Weinberg equilibrium The assumptions that underlie the Hardy–Weinberg equilibrium are population is large mating is random
Rec OS3. Rec OS1. Rec OS2. A. B. F. B. Rec OS1. (-530 ~ -86). Allele group II. Rec OS2. (-530 ~ -86). E. G. C. U. Rec OS3. (-86 ~ +49). S. V. Substitution. W.
Allele Frequencies: Changing. Chapter 15. Changing Allele Frequencies. Mutation – introduces new alleles into population Natural Selection – specific alleles are more likely to be passed down because they are somehow advantageous