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Chromosomes and Genetic Disorders

Author: nuke, Posted on Monday, February 27 @ 01:29:29 IST by RxPG  

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Pathology

CHROMOSOME 1
Alzheimer disease, type 4
Gaucher disease
Prostate cancer
Glaucoma
Rh blood type
TSH, beta chain
Amylase
Histone proteins

CHROMOSOME 2
Antibody, light chain
Myosin, light chain
Glucagon
Mismatch repair 2 (hereditary
nonpolyposis colon cancer, type 1, HNPCC)
Waardenberg syndrome

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 4
Alcohol dehydrogenase
Red hair color
Achondroplasia (dwarfism)
Ellis-van Creveld syndrome
Huntington disease

CHROMOSOME 5
Diastrophic dysplasia
Steroid 5-alpha-reductase-1
Achondroplasia (dwarfism)

CHROMOSOME 6
MHC (Major Histocompatibility Complex)
HCG, FHS, LH, TSH, alpha chain
Beta tubulin
Juvenile onset diabetes
Spinocerebellar atrophy

CHROMOSOME 7
Collagen 1, alpha 2 (Osteogenesis imperfecta)
Trypsin
Blue cone pigment (partial color blind)
Cystic fibrosis
Obesity

CHROMOSOME 8
Burkitt lymphoma
Werner syndrome

CHROMOSOME 9
ABO blood group
Ultraviolet repair (xeroderma pigmentosum & skin cancer prone)
Malignant melanoma
Tuberous sclerosis

CHROMOSOME 10
Hexokinase (hemolytic anemia)
Gyrate atrophy of the choroid and retina
Multiple endocrine neoplasia

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 12
Tirose phosphate isomerase
Keratin
Phenylketonuria (PKU)
Zellweger syndrome

CHROMOSOME 13
Breast Cancer
Retinoblastoma
Wilson Disease

CHROMOSOME 14
Ribosomal RNA
tRNA proline, leucine, threonine
Antibody, heavy chain
Alzheimer disease, type 3

CHROMOSOME 15
Prader-Willi Syndrome,
Angleman Syndrome
Tay-Sachs (N-acetyl-hexosaminidase)
Marfan syndrome (fibrillin)

CHROMOSOME 16
Hemoglobin, alpha chain
Chymotrypsin
Polycystic kidney disease

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 18
Niemann Pick Disease
Pancreatic cancer
Suppressor of pancreatic carcinoma
?Tourette Syndrome
(may not be this chromosome)

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 20
Severe combined immunodeficiencydisease
(SCID)

CHROMOSOME 21
Ribosomal RNA
Amyotrophic lateral sclerosis

CHROMOSOME 22
Ribosomal RNA
Antibody, light chain
Myglobin
DiGeorge syndrome
Neurofibromatosis, type 2

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 Y
Testis-determining factor



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