Genetic Diseases

Gene

Disease

Comments…

beta-globin

Sickle cell & thalassemia

5p-

Cri du chat

Catlike cry, microcephaly.

Adenosine deaminase

SCIDs

PCR detectable, bubble boy.

bcl-2 t14:18

Follicular lymphoma

Inactivates apoptosis.

bcr-abl t9:22

CML; ALL

Philadelphia chromosome. Translocation  abnml gene.

Blood group A

Stomach CA

Association.

Blood group O

Peptic ulcer disease

Association.

chromosome 1 - N myc

Neuroblastoma

chromosome 11

Wilm's tumor

WAGR complex, hemihypertrophy.

chromosome 13

Wilson's disease: Hepatolenticular

Corneal Kayser-Fleischer rings, copper metabolism.

chromosome 13 - Rb

Retinoblastoma. Osteosarcoma.

Two-hit. Normally a suppresor gene, gets inactivated

chromosome 13 - trisomy

Patau's

chromosome 15

Angelman's; maternal.

Microdeletion. Mental retardation. Bursts of laughter.

chromosome 15

Prader-Willi; paternal.

Microdeletion. Mental retardation.

chromosome 16 - APKD-1

Adult Polcystic Kidney Disease

chromosome 17

Pancreatic CA

Home of p53.

chromosome 17 - BRCA-1

Breast CA. Ovarian CA.

Home of p53, and BRCA-1.

chromosome 17 - NF 1

Acustic neuroma

Normally a suppresor gene. Gets inactivated.

chromosome 17 - p53

25-50% lung, colon, breast…

Normally a suppresor gene. Gets inactivated.

chromosome 18 - trisomy

Edward's

Rocker bottom feet, micrognathia.

chromosome 21

Alzheimer's

-amyloid

chromosome 21 - trisomy

Down's

Simian crease, brushfield's spots.

chromosome 22 - NF 2

Meningioma

Normally a suppresor gene. Gets inactivated.

chromosome 3 - VHL

von Hippel-Lindau

Renal cell CA, adenomas, cysts…

chromosome 4

Huntington's

Choreiform mvmnts, caudate. Triple repeats.

chromosome 5 - APC

Familial Polyposis Coli; Gardener's

100%  CA. Suppressor gene gets inactivated.

chromosome 6

Hemochromatosis

Bronze diabetes

chromosome 6

HLA genes

chromosome 7 - CFTR

Cystic fibrosis

Sweat test, lungs, pancreas. Inability to fold protein.

c-myc onc t8:14

Burkitt's lymphoma

Increases transcription. EBV.

erb-B2/neu

Breast CA, SCC of lung

Increases growth factor receptors; gene amplification.

FMR 1

Fragile X syndrome

CGG repeat

HER-2/neu

Breast CA

HLA-A3

Hemochromatosis

Bronze diabetes.

HLA-A3, B7, DR2, DW2

Multiple sclerosis

Geographic distribution.

HLA-B27

Ankylosing spondylitis

HLA-B8

Myasthenia gravis

HLA-B8, Dr3

Sclerosing cholangitis;

Celiac disease

Associated w UC.

HLA-B8, DW3

Celiac disease

Gluten Ab.

HLA-DR2

Ulcerative colitis

Rectum and left colon.

HLA-DR3

Graves'

Hyperthyroidism.

HLA-DR3,4

IDDM

HLA-DR4

Rheumatoid arthritis

HLA-DR5,B5

Hashimoto's thyroiditis

Hypothyroidism.

LDL -R

Familial hypercholesterolemia

piZZ

Panacinar emphysema

alpha 1-antitrypsin.

raf onc

Cytoplasmic protein kinases.

ras onc

30% of all CA. Colon CA.

Point mutation. Produces GTPs. p21 proteins.

sis onc

Carcinomas; astrocytoma

Produces its own growth factor.

src onc

Produces membrane tyrosine kinases.

XO

Turner's

Amenorrhea, webbed neck.

XXY

Klinefelter's

Atrophic testes, tall, female fat distribution.

XYY

Criminals, tall, acne.

Autosomal Dominant

von Willebrand's

125

familial hypercholesterolemia

500

Adult polycystic kidney disease

1250

IHSS

1500

Huntington's

2500

Neurofibromatosis

3000

Congenital spherocytosis

5000

familial Polyposis

8000

intermittent Porphyria

10000

Marfan's

20000

von Recklinghausen's

von Hippel-Lindau

Autosomal Recessive

alpha 1-antitrypsin deficiency

Thalassemia

Glycogen storage disease

Alcaptomuria

Homocystinuria

Hemochromatosis

400

Sickle cell anemia

625

Cystic fibrosis

2500

Tay-Sachs

3600

Phenylketonuria

10000

21-hydroxylase

14000

Albinism

18000

Mucopolysaccharidase

25000

Galactosemia

57000