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BSC 329 Fall 09 Outline by Mind Map: BSC 329 Fall 09 Outline
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BSC 329 Fall 09 Outline

Globin Gene Model

Production of Hemoglobin protein

Very brief review of basics here.

gene structure

RNA splicing

gene expression

protein structure and function

organization of The Globin gene family

Evolution, Gene duplication, pseudogenes

Developmental regulation, Locus Control Region, methylation

polymorphisms

the nature of mutations

Hemoglobin variants

neutral theory

lactose Intolerance

SNPs and human variation, race

Sickle Cell Anemia

pathology and Biochemistry

disease treatment, physical interventions, Genetic interventions?

Mutation Detection, hybridization, RFLPs, ASO assays, PCR, sequence analysis

origins of disease, allele frequencies, balanced polymorphisms, haplotyping

thalassemias

pathology

gene dosage

Population Screening, microarrays, Ethical Concerns, Eugenics

single gene disorders

ABO blood groups

recessive

enzymopathies, PKU, lysosomal storage, Tay-Sachs, Galactosemia, G6PDH deficiency

albinism

AAT deficiency

XP

cystic fibrosis

osteogenesis imperfecta

dominant

neurofibromatosis, penetrance, Expressivity

achondroplasia

sex-linked

X-inactivation, mosaicism, RNAi, methylation

DMD

pattern baldness

Lesch-Nyhan

Weird inheritance

Lethal alleles, Familial hypercholesterolemia

Epistasis, Bombay phenotype

trinucleotide repeats, myotonic dystrophy, Huntington disease, Fragile X

mitochondrial, maternal Inheritance, MERRF, leber's

chromosomal disorders

analysis

Banding

FISH

numerical changes

Klinefelter Syndrome

Turner Syndrome

Down syndrome

structural changes

cri-du-chat

Williams syndrome

imprinting

Prader-Willi syndrome

Angelman syndrome

genome structure

novel genes

exon shuffling

fusion genes, color blindness

repetitive Genome elements

simple Repeats

DNA profiling

transposons, pseudogenes, retroviruses

genomics

bioinformatics

physical mapping, libraries, cloning

multifactorial disorders

threshold and liability

pyloric stenosis

CV disease

peptic ulcer

analysis

linkage mapping

concordance

heritability, obesity, intelligence, behavioral genetics, schizophrenia, bipolar disorder, alcoholism, autism

genome-wide association, diabetes, Alzheimers

Cancer

oncogenes

signal transduction, ras

myc, Burkitt's

Chronic Myelogenous Leukemia

tumor suppressor genes

cell cycle regulation

RB, retinoblastoma

p53

colon cancer

Cervical cancer

breast cancer