Congenital Malformations are due to... correct answers complex interplay of genetic and environmental factors, NOT because of a single gene or chromosome defect
Incidence Rate correct answers number of new cases of a disease reported during specific period (one year)
Divided by number of indivi...
Pathophysiology Chapter 5 || All Correct.
Congenital Malformations are due to... correct answers complex interplay of genetic and
environmental factors, NOT because of a single gene or chromosome defect
Incidence Rate correct answers number of new cases of a disease reported during specific period
(one year)
Divided by number of individuals in population
Denominator=person-years
Prevalence Rate correct answers contrasts with incidence rate. Proportion of population affected
by a disease at a specific point in time.
Prevalence is determined by incidence rate and length of survival period in affected individuals.
Ex. AIDS: larger than the yearly incidence rate b/c can survive years after diagnosis
Prevalence varies by... correct answers Population
Ex. Cystic fibrosis common in Europeans and rare in Asians
Ex. Sickle Cell common in African Americans, rare in European Americans
Due to disease-causing mutations more/less common in different populations
Nongenetic (environmental) factors have little influence on prevalence.
Environmental Factors correct answers affect etiology of cancers of colon and stomach in study
involving Japanese and Japanese-Americans. Diet high in fat, low in fiber increases colon
cancer, preservation of fish leads to stomach cancer. Genes can also play a role though.
Relative Risk correct answers Measure effect of a specific risk factor:
Incidence rate of disease among individuals exposed/incidence rate of disease among individuals
not exposed
Ex. Cigarette smoking and lung cancer: British Study: incidence death from lung cancer in
physicians who smoked with those that did not. Relative Risk: 23.7 deaths. 24-fold increase in
deaths related to cigarettes
Smoking correct answers most smokers don't develop lung cancer
genetic background affects likeliness of developing it
Environmental factors (breathing in other carcinogens)
Polygenic correct answers Traits in which variation is thought to be caused by combined effects
of multiple genes
Multifactorial Trait correct answers environmental factors cause variation in trait
Quantitative Trait correct answers Measured on continuous numeric scale and is multifactorial
Ex. Blood pressure
Caused by additive effects of genetic and environmental factors
Follow bell curve
Mendelian principles of segregation and independent assortment: act together to influence trait
, Genetic research goal... correct answers identify and measure the relative roles of genes and
environment in causation of multifactorial diseases
Bell Curve correct answers not all diseases follow:
present or absent in individuals
don't follow inheritance patterns expected of single gene disease
liability distribution
Liability Distribution correct answers individuals on low end of distribution have little chance of
developing disease because they have few of the disease causing genes and environmental
factors.
Individuals on high end do have the genes and environmental factors. Likely to develop disease.
Threshold of Liablitly correct answers must be crossed before disease is expressed
Below threshold: appear normal
Above threshold: display disease
Pyloric Stenosis correct answers corresponds to threshold model
presents after birth: narrowing/obstruction of pylorus (stomach)
Causes: chronic vomiting, constipation, weight loss, electrolyte imbalance
Can resolve spontaneously or correct through surgery
More common in white males. This difference in prevalence reflects two thresholds in liability
distribution: lower threshold=males, high threshold=females
Low threshold means fewer disease-causing factors are required to generate disorder in males.
Proband correct answers individual from which the pedigree begins:
higher when proband is female b/c higher threshold means must be exposed to more disease
causing factors
*male relatives of female probands at highest risk
Infantile Autism correct answers behavioral disorder in which male/female ratio=4:1.
Multifactorial disorder.
•Recurrence risks for siblings of male probands is lower than siblings of female probands.
•If sex ratio for disease reversed females would expect higher recurrence risk when proband is
male.
Congenital Malformations correct answers Correspond to model for multifactorial disease
(genetic and environmental):
Isolated cleft lip/cleft palate (Isolated means only observed disease feature)
neural tube defects (anencephaly, spina bifida)
clubfoot (talipes)
congenital heart disease
Hypertension
Coronary heart disease
Stroke
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