GeneticsExam3Diseases.txt

Most common birth defect in women. Can detect by high alpha-feto protein. Anterior (anancephaly), Posterior (spina bifida or meningomyelocele). Good example of a multifactorial, influenced by gene and environment. Environment low folic acid causes methionine synthase to remain inactive; Public Health Initiate to Take Folic acid has decreased NTD by 75%. Genetic; NTD increases with affected relatives.

F508 mutation is most common. Use cascade screening, which checks for high IRT levels, to eliminate individuals from further screening.

cancer of epithelial cell in general

cancer of epith. keratocyte

cancer of glandular organization

cancer of bile duct epithelium

cancer of muscle, CNT

cancer of cartilage

cancer of melanocyte

Inherited Oncogenes both of which cause tyrosine kinase receptor overactivity. RET oncogene---> endrocrine neoplasm (MEN2A or MEN2B) and MET oncogene---> renal neoplasm

activation of oncogene via chromosomal translocation. cMyc gene is overexpressed in heavy chain immunoglobin. Translocation between 8/14 (2/8 or 8/33). Treat with EPOCH-Rituxan

activation of oncogene via chromosomal translocation. cancer of hematopoietic cells of meyoblasts (which normally produce WBC) causes death from bleeding and infection of bone marrow. Translocation produces philadelphia chromosome which makes bcr-abl fusion protein. Treatment Gleecec/imatinib is a bcr-abl fusion protein inhibitor.

Rb-tumor suppressor gene mutation due to loss of heterogeneity. Autosomal Dominant type. Sporadic is unilateral and later onset. Familar is bilateral, with multiple tumors and early onset.

p53-tumor suppressor gene mutation due to **missense mutation (remember most other tumor supp are loss of function mutations). This distrupts the tetramer structure of good p53 products. MDM2 normally blocks p53 induced cell division. Easy to ID pedigree is full of many different types of cancer. Regular screenings required. occurs if young age sarcoma or 1st degree family member has cancer at a young age.

Theory that if a trait is solely inherited, correlation of that trait = %DNA shared. So 0.5 correlation of a solely inherited trait between siblings.

Her = 2 x (%MZ concor - %DZ concor)

Hints that a trait is inherited if it fits this model. Ys = DNA shared with indiv./General prevalence. Example General prevalence of HD is 0.01%. So with a sibling Ys = 50%/0.01% = 5000. THat's 5000 x fold increase in getting HD than the general population.

Multifactorial disease. Env ---> late onset depends on age and ethnicity. Genetic ---> early onset with inherited APP or PS1 mutations

Multifactorial disease. Mechanism of glucose control is very complex with many proteins. TypeI ---> beta cell autoimmune and associated with HLA protein. TypeII ---> insulin resistance with weight and no HLA association. MODY ---> Juvenile onset but like type II. Again no HLA association.

Pyrimidine synthesis reactions will cause problems. disorder characterized by multiple malformations, cleft palate, hypoplasia, eyelid issue, supernumarary nipples.

COmmon in west africans or areas where malaria is common. Heterzygous advantage for malaria

Explains why a gene that has a certain function in many tissues does not cause cancer of all of those tissue types. Each tissue type has a particular gene that is responsible for maintaining a constant cell #.

tumor supressor gene where beta-catenin is activated---> promotes cell division. Normally APC inactivates beta-catenin. Polyps develop in large intestine. Initially benign but eventually malignant

Tumor supressor type mutation of 3'Kinase. p53 defect where growth of damaged DNA is not stopped. Autosomal Dominant. Cerebellar ataxia

Caretaker gene - Nucleotide Excision Repair. UV radiation can cause skin carcinoma or melanoma. Skin and eye photosensitivity and skin lesions

Caretaker gene - post-rep DNA mismatch repair and microsatellite instability. UV rad can cause colon and ovarian cancer

Caretaker - ds DNA repair. Mild alkylating agents cause carcinoma, leukemia, lymphoma

Caretaker - ds DNA repair. DNA crosslinking or oxidizing chemicals cause acute myeloid leukemia, and squamous cell carcinoma. developmental abnormalities, anemia, infertility

caretaker - ds DNA repair. BRCA1(17q AD - ovarian and breast cancer) or BRCA2(13q AD just breast cancer) associated with father --> transmission and Falconi anemia pathway. 10% incidence with 20% having a genetic component.