HUMAN GENOMICS
Background
Our knowledge of the genetic disease has expanded exponentially since Linus Pauling
inaugurated genetic medicine with his electrophoretic study demonstrating the charge
difference between sickle cell hemoglobin and non-mutant hemoglobin. It was later
determined that the charge difference results from a single amino acid substitution
caused by a base change in the gene sequence. Through completing the following
activity you will come to appreciate the information that freely available as part of the
Human Genome Project and to gain a better understanding of the molecular and
cellular biology of a particular genetic disease.
Assignment
Choose a disease with a known genetic component from the following list, and write a
review for the genetic disease containing the following information.
1. Determine the physiological symptoms of the disease; the characteristics that
distinguish those people having this condition from those that don’t have the
condition or that have a similar disease.
2. Determine the probability of disease in the general population. Are there certain
groups of people that are more likely to have the disease do to their social history
or environmental circumstances?
3. Determine the type of inheritance pattern demonstrated by this genetic disorder.
Is it autosomal dominant or recessive? X-linked dominant or recessive? Or
some other more unique form of inheritance? Create and describe an example
pedigree that demonstrates this form of inheritance.
4. Identify the location of the gene(s) within the human genome. What chromosome
is the gene located on and on what arm of the chromosome is it found? How
long is the gene nucleotide sequence? Find and show the DNA sequence for the
gene. Are there homologous genes or sequences in other model organisms?
5. Describe the function of the protein associated with the disease related gene, and
explain how it’s malfunction can result in the physiological symptoms common to
the disease. What is the pdb file ID for the protein associated with the gene?
What does the protein look like?
6. Describe the history of treatment for this disease or condition, and what the
prognosis for this disease is.
Genetic Diseases
Sickle cell anemia
Gaucher Disease
Chronic myeloid leukemia
Paroxysmal nocturnal hemoglobinuria
Thalassemia
Ovarian Cancer
Lung Carcinoma
Multiple Endocrine Neoplasia
Tumor Suppressor p53
Polycystic Kidney Disease
Harvey Ras Oncogene
Tuberous Sclerosis
Crohn’s Disease
Diabetes, Type I
Wilson’s Disease
Best Disease
Gyrate Atrophy of the Choroid and Retina
Pendred Syndrome
Adrenal Hyperplasia, congenital
Autoimmune Polyglandular Syndrome
Diastrophic Dysplasia
Ataxia telangiectasia
Long QT Syndrome
Asthma
Immunodeficiency with Hyper-Ig-M
Alport Syndrome (M)
Achondroplasia
Charcot-Marie-Tooth Syndrome
Ellis-van Creveld Syndrome
Marfan Syndrome
Angelman Syndrome
Prader-Willi Syndrome
Werner Syndrome
LaFora Disease
Familial Mediterranean Fever
Gaucher Disease
Lesch-Nyhan Syndrome
Menkes Syndrome
Parkinson Disease
Refsum Disease
Spinocerebellar Ataxia
Tay-Sachs Disease
Obesity
Wolf-Hirschhorn Syndrome
Burkitt Lymphoma
Hemophilia A
Niemann-Pick Disease
Porphyria
Breast Cancer
Colon Cancer
Malignant Melanoma
Neurofibromatosis
Pancreatic Cancer
Prostate Cancer
Retinoblastoma
Von Hippel-Lindau Syndrome
Cystic Fibrosis
Glucose Galactose Malabsorption
Zellweger Syndrome
Glaucoma
Deafness
Rett Syndrome (F)
Adrenoleukodystrophy
Cockayne Syndrome
Multiple Endocrine Neuplasia
Atheriosclerosis
Williams Syndrome
DiGeorge Syndrome
Severe Combined Immunodeficiency
Male Pattern Baldness (M)
Amyotrophic Lateral Sclerosis
Duchenne Muscular Dystrophy
Fibrodysplasia Ossificans Progressiva
Myotonic Dystrophy
Fragile X Syndrome
Waardenburg Syndrome
Alzheimer Disease
Essential Tremor
Friedreich’s Ataxia
Huntington Disease
Maple Syrup Urine Disease
Narcolepsy
Phenylketonuria
Spinal Muscular Atrophy
Tangier Disease
Hereditary Hemochromatosis
Alpha-1-Antitrypsin Deficiency
Web Materials
Entrez, The Life Sciences Search Engine
http://www.ncbi.nlm.nih.gov/Entrez/
Human Genome Project Genetic Diseases
http://www.ornl.gov/sci/techresources/Human_Genome/medicine/assist.shtml
http://www.ornl.gov/sci/techresources/Human_Genome/posters/chromosome/diseaseindex.shtml
KU Med Center Genetic & Rare Conditions Site
http://www.kumc.edu/gec/support/
Genes & Disease
http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowSection&rid=gnd.preface.91
Dolan DNA Learning Center’s Your Genes Your Health
http://www.ygyh.org/
Ask the Geneticist
http://www.askthegen.org/
Genetics Home Reference
http://ghr.nlm.nih.gov/
Online Books
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=Books
Online Mendelian Inheritance in Man
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=Books
GenBank
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=Nucleotide
Gene Homologs
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=homologene
Protein Databank
http://www.rcsb.org/pdb/Welcome.do
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=Protein
PubMed Central
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pmc