B-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 b-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 ß a1-antitrypsin.

raf onc- Cytoplasmic protein kinases.

ras onc -03% 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.