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ADVANCED PATHOPHYSIOLOGY ACTUAL EXAM 2 NEWSET
VERSION - 2025/2026- 100+QUESTIONS AND VERIFIED
ANSWERS (100% SUCCEESS)
dominant trait, which of the following would be true? a) their next child would have the dominant trait b) their next child would have the recessive trait c) there is a 25% chance their next child would show the recessive trait d) they cannot have a child with the recessive trait c In an autosomal dominant disorder, mom is affected, father is unaffected. The inheritance chance for offspring is: a. Affected 50%, Unaffected 50% b. Affected 25%, Unaffected 75% c. Affected 75%, Unaffected 25% d. Affected 100%, Unaffected 0% a
Autosomal Recessive two copies of an abnormal gene must be present in order for the phenotype to be expressed 2 copies of the gene mutation for the offspring to inherit both parents have to have the autosomal recessive gene X-linked dominant dominant trait or disorder caused by a mutation in a gene on the X chromosome phenotype expressed in females and males most of the time the offspring does not survive x-linked recessive mutation in a gene on the X chromosome causes the phenotype to be expressed in males who inherit the gene as well as females who are homozygous for the mutation carrier females do not express phenotype A mother is a carrier for x-linked recessive Emery-Dreifuss muscular dystrophy gene. The father has not been tested but does not exhibit the phenotype that would normally be showing at his age (upper and lower extremity weakness,
d In an x-linked dominant disorder, mom is affected, father is unaffected. The offspring's chance of inheritance is: a. Carrier 25%, Non-carrier 75%, Affected 0% b. Affected 50%, Non-affected 50% c. Affected 75%, Non-affected 25% d. None of the above B In an x-linked dominant disorder, mom is affected, father is affected. The offspring's chance of inheritance is: a. Affected 25%, Non-affected 25% b. Affected 50%, Non-affected 50% c. Affected 100%, Non-affected 0% d. Affected 75%, Non-affected 25% d
In an x-linked recessive disorder, mom is affected, father is non-carrier. The offspring's chance of inheritance is: a. Non-carrier 25%, Carrier 25%, Affected 50% b. Non-carriers 0%, Carrier 50%, Affected 50% c. Non-carrier 25%, Carrier 25%, Affected 50% b A husband and wife are both carriers for phenylketonuria. What are the chances they will conceive an offspring with that disease? a) 0% b) 25% c) 50% d) 75% B Who are more likely to suffer from X-linked diseases and why? a) Females, because they have two X-chromosomes and are therefore more likely to inherit one with a disease b) males, because they have only one X-chromosome and if it is mutated they have no back up copy c) females, because one of their X-chromosomes is deactivated d) both males and females are equally likely to suffer from X-linked disorders
b) duplication c) inversion D) translocation B Broken chromosome with reordering of chromsomal fragment a) deletion b) duplication c) inversion D) translocation C Exchange of DNA between chromosomes a) deletion b) duplication c) inversion D) translocation D
Both alleles at a given locus are identical a) homozygous b) heterozygous c) phenotype d) genotype A Alleles at a given locus are different from one another a) homozygous b) heterozygous c) phenotype d) genotype B Autosomal Dominant Describes a trait or disorder in which the phenotype is expressed in those who inherit the gene from even only one parent. Heterozygous or Homozygous Each offspring has a 50% chance of inheriting the mutation
- screening/mammograms at least 10 years prior to the age of the youngest diagnosed family member
- removal of ovaries by age of 40 or after done having children - reduces risk by 50%
- prophylactic hysterectomy Disorders/diseases with strong familial history
- Huntington Diseae
- Breast/Ovarian Cancer
- Hereditary Hemochromatosis
- Alzheimer's Disease
- Colorectal Cancers
- Coronary Artery Diseae
- Stroke
- HTN
- Diabetes
- Asthma
- COPD
- Mental Illness What is GINA
Genetic Information Nondiscrimination Act
- this law prohibits discrimination in employment and health insurance coverage based on genetics Mutation found in Huntington's Disease 36 - 55 CAG repeats - adult onset 60 CAG repeats - juvenile onset inherited autosomal dominant trait with 100% penetrance Familial Adenomatous Polyposis (FAP) mutation
- colorectal cancer
- inactivation of tumor suppressor gene APC
- fairly rare autosomal dominant mutation found in breast cancer mutations in BRCA1 and BRCA normally act as tumor suppressor genes, when mutation occurs, inhibited tumor suppression results autosomal dominant with 60-85% penetrance
tested for in newborns autosomal recessive disorder caused by mutations in PAH gene Genetics of sickle cell disease autosomal recessive result of mutated hemoglobin molecule result of point mutation thymine in place of adenine in 6th codon of beta-chain gene on chromosome 11 calculate penetrance [(number of individuals with clinical features)/(number of individuals with disease causing mutation)] x 100 anticipation the tendency in certain genetic disorders for individuals in successive generations to present at an earlier age and/or with more severe manifestations
Cansanguinity genetic relatedness between individuals descended from at least one common ancestor Give examples of two tumor markers AFP - alpha fetoprotein secreted by liver and germ cell tumors PSA - prostate specific antigen released by prostate tumors paraneoplastic syndrome phenomenon where a tumor marker itself has a biologic activity and then causes symptoms What are the defining characteristics of cancer? dysregulated growth (immortal) invasion (local spread) metastasis (spread)
passenger mutations have no direct contribution to cancer phenotype, just random events, along for the ride Oncogenes mutant genes that in their normal non-mutant state direct synthesis of proteins that positively regulate (accelerate) proliferation tumor suppressor genes also referred to as anti-oncogenes encode proteins that in their normal state negatively regulate (halt or put the breaks on) proliferation explain the relationship of tumor suppressor genes and cancer
- tumor suppressor genes must be inactivated for cancer to occur.
- we have two copies or alleles of each gene one from each parent. It takes two hits to inactivate the two alleles of a tumor-suppressor gene
What is the role of gatekeeper TSGs
- control cell proliferation by regulating the cell cycle
- act as guards that prevent cells from passing through the cell cycle checkpoints
- countering the progression of cellular growth
- encouraging apoptosis
- deactivation of gatekeepers allows cells to bypass the cell cycle checkpoints leading to unrestricted proliferation, differentiation, and immortality of tumor cells What is the role of caretaker TSGs
- maintain the integrity of cellular genetic material
- involved in DNA repair and help prevent accumulation of mutations Cyclins A group of proteins whose function is to regulate the progression of a cell through the cell cycle and whose concentrations rise and fall throughout the cell cycle no catalytic activity synthesized at specific stages of the cell cycle
M - presence of distant metastasis tumor grade description of a tumor based on how abnormal the cells and the tumor tissue look under microscope well differentiated - grow and spread at lower rate undifferentiated - abnormal cells lack normal tissue structure - grow and spread quickly Grade 1, 2, 3, and 4 1 - well differentiated, low grade 2 - moderately differentiated intermediate grade 3 - poorly differentiated, high grade 4 - undifferentiated, high grade three leading causes of cancer deaths in men lung and bronchus prostate colon and rectum
three leading causes of cancer deaths in women lung and bronchus breast colon and rectum What normally healthy chemicals of the body accelerate cancer cell growth in breast cancer? estrogen progesterone HER2 (a growth hormone) Role of HER2 in breast cancer
- healthy HER2 receptors are the proteins that help manage how breast cells grow, divide, and repair itself
- in cancer, commonly not functioning properly
- makes excess number of copies - HER2 gene amplification
- extra genes instruct production of HER2 receptors - HER2 protein overexpression
- breast cells grow and divide in uncontrolled fashion
