GENETIC DISORDERS Internet & PowerPoint Project








 

 

 

 

 

GENETIC DISORDER CHROMOSOME MAPS


Genetic Disorder Chromosome Maps

Look through the list of genetic disorders found on each chromosome until you locate the one you have been assigned for the project. The disorders in red are the suggested ones for the Genetic Disorders Project. When you have located your genetic disorder, click on the link for the CHROMOSOME # heading. It will link you to the chromosome graphic page to see where the gene causing the disorder is located on the chromosome and copy the chromosome graphic to use in your project.

CHROMOSOME 1
Alzheimer disease, type 4

Gaucher disease 
Prostate cancer 
Glaucoma 
Rh blood type 
TSH, beta chain 
Amylase 
Histone proteins 
CHROMOSOME 13 
Breast Cancer
Retinoblastoma
Wilson Disease
CHROMOSOME 2
Antibody, light chain 
Myosin, light chain 
Glucagon 
Mismatch repair 2 (hereditary
nonpolyposis colon cancer, type 1, HNPCC) 
Waardenberg syndrome 
CHROMOSOME 14
Ribosomal RNA 
tRNA proline, leucine, threonine 
Antibody, heavy chain 
Alzheimer disease, type 3
CHROMOSOME 3
Rhodopsin (retinitis pigmentosa, partial color blind) 
Mismatch repair 1 
Colon cancer, nonpolyposis, type 2 
Small cell lung carcinoma 
Von Hippel-Lindau syndrome 
CHROMOSOME 15
Prader-Willi Syndrome, Angleman Syndrome 
Tay-Sachs (N-acetyl-hexosaminidase) 
Marfan syndrome (fibrillin) 
CHROMOSOME 4
Alcohol dehydrogenase 
Red hair color 
Achondroplasia (dwarfism) 
Ellis-van Creveld syndrome 
Huntington disease
CHROMOSOME 16
Hemoglobin, alpha chain 
Chymotrypsin 
Polycystic kidney disease 
CHROMOSOME 5
Diastrophic dysplasia 
Steroid 5-alpha-reductase-1
Achondroplasia (dwarfism)
CHROMOSOME 17
p53 Tumor Suppressor Protein 
Charcot -Marie-Tooth-Syndrome 
Myosin, heavy chain 
Neurofibromatosis

Collagen 1, alpha 1 (Osteogenesis imperfecta) 
Growth hormone - Dwarfism

Glucose transporter 
Familial breast & ovarian cancer, type 1 
CHROMOSOME 6
MHC (Major Histocompatibility Complex) 
HCG, FHS, LH, TSH, alpha chain 
Beta tubulin 
Juvenile onset diabetes 
Spinocerebellar atrophy 
CHROMOSOME 18
Niemann Pick Disease 
Pancreatic cancer 
Suppressor of pancreatic carcinoma
?Tourette Syndrome

      (may not be this chromosome) 
CHROMOSOME 7
Collagen 1, alpha 2 (Osteogenesis imperfecta) 
Trypsin 
Blue cone pigment (partial color blind) 
Cystic fibrosis

Obesity 
CHROMOSOME 19
Familial hyperchlolesteralemia (LDL receptors) 
Brown hair color 
Blue/green eye color 
LCG, beta chain 
LH, beta chain (Polio virus sensitivity)
Apolipoprotein E 
Myotonic dystrophy 
CHROMOSOME 8
Burkitt lymphoma 
Werner syndrome 
 CHROMOSOME 20
Severe combined immunodeficiencydisease

     (SCID) 
CHROMOSOME 9
ABO blood group 
Ultraviolet repair (xeroderma pigmentosum
& skin cancer prone) 
Malignant melanoma 
Tuberous sclerosis 
CHROMOSOME 21
Ribosomal RNA 
Amyotrophic lateral sclerosis 
CHROMOSOME 10
Hexokinase (hemolytic anemia) 
Gyrate atrophy of the choroid and retina 
Multiple endocrine neoplasia 
CHROMOSOME 22
Ribosomal RNA 
Antibody, light chain 
Myglobin 
DiGeorge syndrome 
Neurofibromatosis, type 2
CHROMOSOME 11
Hemoglobin, beta chain (sickle cell anemia, thalessemia
Insulin (mutation NOT usual cause for diabetes) 
Parathyroid hormone 
Catalase 
FHS, beta chain 
Tyrosinase (Albinism

PAX6, Aniridia 
Ataxia telangiectasia 
Harvey ras oncogene 
Long QT syndrome 
CHROMOSOME X
Red/green color blindness

Hemophilia A

Pseudoautosomal region X 
Interleukin 2 receptor gamma chain (“boy in the bubble”) 
Adrenoleukodystrophy (ALD-“Lorenzo’s Oil”) 
Duchenne muscular dystrophy
     Becker muscular dystrophy (dystrophin) 
Menkes syndrome 
Fragile X (X-linked mental retardation)
CHROMOSOME 12
Tirose phosphate isomerase 
Keratin 
Phenylketonuria (PKU)

Zellweger syndrome 
CHROMOSOME Y
Testis-determining factor 
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Chromosome diagrams are from the National Center for Biotechnology Information.
http://www.ncbi.nlm.nih.gov/genome/guide/

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See Newsweek April 10, 2000 for a great article on the Human Genome Project.
http://newsweek.com/nw-srv/printed/us/st/a18147-2000apr2.htm

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HUMAN KARYOTYPE IDIOGRAM
Idiograms are similar to karyotypes except they show only 1 set of chromosomes)

Human IdiogramChromosome 2Chromosome 3Chromosome 4Chromosome 5Chromosome 6Chromosome 8Chromosome 9Chromosome 10Chromosome 11Chromosome 12Chromosome 12Chromosome 14Chromosome 15Chromosome 16Chromosome 17Chromosome 18Chromosome 19Chromosome 20Chromosome 21Chromosome 22Chromosome YChromosome X

The idiogram shown is from the National Center for Biotechnology Information.
http://www.ncbi.nlm.nih.gov/genome/guide/

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SCOPE PROJECT 2000

Plano ISD - scope@pisd.edu

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