What is this?

A rare sex-linked recessive trait
Total absence of immunoglobulins and B cells
Severe…recurrent eye/ear nose infections
You can give IgG injections

iron,

vitamin B12,

vitamin B6, 

folic acid

1)  Neutrophils survive no more than __ days in the peripheral circulation

2)  Hematopoeisis occurs where in the embryo?

3)  where in the fetus?

4) Roughly __% of wbcs are NEUTROPHILS?

1)  4

2) Yolk sac

3)  Spleen/liver

4) 70%

1)  Anemia is a reduction of hemoglobin in the blood to below normal levels (___ in males and ____  in females)

2)  T/F? Hemoglobinopathies  (disorders of human hemoglobins) are the most common single-gene diseases in humans and they cause substantial morbidity.
 

1)  13 g/dL....11.5 g/dL

2)  True 

1)  In addition to Hb A, there are five other normal human hemoglobins, each of which has a tetrameric structure consisting of two α or α-like chains (Chr ___) and two β or β-like chains (Chr __).

2)  What is on the Alpha Globulin Gene sequence?

3)  Each Hemoblobin has how many heme groups for binding Iron?

1)  Alpha (Chr 16) 

Beta (Chr 11).

2)  Two copies of the alpha-globin gene, the zeta gene, and pseudogenes  

3)  Four

1)  T/F both alpha and beta are expressed in fetal and adult hemoglobin?

2)  What is beta-globin cluster consistent of?

recessively

beta

1) Single ___mutation at ____ changes aa identity from _____ to Valine
Results in longer than normal fibers in the sickle cell

2)  Treatment with an anticancer drug, _____, reactivates gamma genes
Fetal hemoglobin reappears in red blood cells
 

1)  A->T....Amino acid  6.....Glutamate

2)  hydroxyurea

1)  Clonal proliferation of hematopoietic stem cells
Uncontrolled production of red blood cells and an increased total red blood cell mass
Myeloproliferative disorder

2)  Genetic disorder associated with an imbalance in the ratio of alpha and beta globin caused by reduced or absent synthesis of alpha globin
Most common cause is deletion of one or both alpha globin genes 
 

1)  Primary polycythemia or polycythemia vera

2)  Alpha thalassemia
 

1)  T/F?  Genetic disorders of α-globin production affect the formation of both fetal and adult hemoglobins

2)  What is this called?  the gamma-4 tetramer  – infants suffer from severe intrauterine hypoxia and are born with massive generalized fluid accumulation, a condition called hydrops fetalis  

1)  True

2)  (Hb Bart’s)...FATAL

3)  the β4 tetramer (Hb H)...25% fcting Hb

1)  major

2) minor

1)   caused by large deletions in which the β-globin gene, as well as one or more of the other genes (or LCR) in the β-globin cluster, is removed.

2)  impairs the production of β-globin alone. Almost every type of mutation known to reduce the synthesis of a β-globin mRNA or protein has been identified as a cause of β-Thalassemia.
 

1)  Complex Thalassemias

2)  Simple β-Thalassemia:

1)  Increase in white blood cell count to above normal levels
 

Leukemias are malignant diseases involving white blood cell precursors in the bone marrow and peripheral blood
1)   which occurs in all age groups?
2) a disease of adulthood?
3)  most common form affecting children under 5?
4)  a disease of older people?

1)  Acute myelogenous (AML) –

2)  Chronic myelogenous (CML) –

3)  Acute lymphocytic (ALL) –

4)  Chronic lymphocytic (CLL)

1)  T/F....Non-Hodgkin’s lymphoma – more common  in children

2)  Hemophilia A is an ______ disorder of coagulation caused by mutation in the F8 gene
Mutations of F8 cause deficiency or dysfunction of clotting factor ___.

3)  T/F  With hemophilia A...If a mother is a carrier, each son has a 50% risk of hemophilia, and each daughter has a 50% risk of inheriting the mutation
 

1)  False...more common in adults

2)  X-linked recessive.....VIII

3)  True

1)______ _____is an X-linked recessive disorder of coagulation caused by mutation in the F9 gene
Mutations of F9 cause deficiency or dysfunction of clotting factor IX

2) Factor IX _____ is an unusual variant caused by a point mutation in the F9 promoter; causes low levels of factor IX and severe hemophilia in childhood, but spontaneous resolution at puberty as factor IX levels nearly normalize
 

1)  Hemophilia B

2)  Leyden

1)  True (relative to single gene mutations and genome/chromosome mutation Disorders)

2)  concordance.....coefficient of correlation

1)  If a trait has a heritability (h^2) of __, it means that all phenotypic variation in the population is caused by genotypic differences

2)T/F...When comparing Concordance rates with MZ and DZ twins....The smaller the difference between teh groups…the less environment factors in?

1)  1.0

2) False...THE LARGER THE DIFFERENCE...the more genetics factor in (less environmental)

1)  T/F..The primary risk factor for cancer is age

2)  cancers that  originate in mesenchymal tissue

3)  When cancer occurs as part of a ______ cancer syndrome, the initial cancer-causing mutation is inherited through the germline (~5% of all patients with cancer)

4) Genes that initiate or maintain cell division

5)  T/F? Oncogenes are permanently switched on proto-oncogenes that cause uncontrolled cell division
 

1)  True

2)  Sarcomas –(connective tissue bone, cartilage etc)

3)  hereditary

4)   Proto-oncogenes

5)  True

1)  T/F...Recessive mutations in tumor suppressor genes cause cancer

2)  What are these called?  

-Genes that regulate cell growth and passage through the cell cycle
-Genes that mediate programmed cell death

3) what is the other kind of TSG?

1)  True

2)  Gatekeeper TSGs (tumor suppresor genes)

3)  Caretaker (responsible for proofreading genetic code)

1)  1st cancer chromosome to be shown to be due to translocation

2)  Translocation of which 2 chromosomes?

3)  _______ inactivates the BCR-ABL protein; cancer cell stops dividing

4)  CML accounts for____% of adult leukemia and has an incidence of 1 to 2 per 100,000
 

1)  Philadelphia chromosome (22)

2) translocation between the long arms of chromosomes 9 and 22 (The hybrid gene encodes an abnormal protein that signals CML cells to divide BCR-ABL

3)  Imatinib (Gleevec™)

4)   15%

During the progression of CML, tumor cells from _____% of patients acquire additional chromosome changes, another Philadelphia chromosome, or both.

 2)  Retinoblastomas are caused by mutations in the RB1 gene on chromosome __.

3)  The RB1 Gene Encodes ___ Protein

4)  What kind of protein is this?

1)  50-80%

2)  13

3)  pRB

4) The tumor-suppressor protein 

1)  An RB1 germline mutation is found in ___of patients with retinoblastoma, yet only 10% have family members who also have or had retinoblastoma

2)  T/F...All patients with bilateral disease have germline RB1 mutations, but not all patients with germline mutations develop bilateral disease
 

1)  40%

2)  True

1)   Naming tumors of Epithelial tissue: tissue name + “_____”

2)  T/F....Malignant tumors have "capsules"

3)  T/F Benign tumors are completely harmless

1)  Epithelial tissue: tissue name + “carcinoma”

2)  False they do not...Benign do

3) False, they can damage nearby organs by compressing them...or overdo the job of the cell they are mimicking.  (oversecretion)