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 |