Human Genetics: Patterns of Inheritance Flashcards
The ff. can have genetic testing EXCEPT
a. Normal adult asking if he/she can develop certain genetic condition
b. Mother asking if her newborn baby can have a genetic condition
c. Pregnant mother asking if she should abort her baby
d. Couple wanting to be assured that they will have a normal child when they get pregnant
C
True of predictive testing
a. Genetic testing that will predict the risk of disease
b. genetic variants vs. several genes together
c. presence of genetic mutation does not necessarily mean disease will develop
d. Usually done for disorders that display age dependent penetrance
e. A and B
f. C and D
F; A and B is predispositional testing
What kind of test did Angelina Jolie have?
a. Predictive
b. Predispositional
c. Carrier testing
d. NOTA
A
Type of testing to see if individual possess a heterozygous state of an autosomal/X linked recessive gene, or translocation, or mitochondrial mutation
carrier testing
True of prenatal testing EXCEPT
a. Diagnosing genetic disorders in utero
b. Done when there is a high risk of serious and untreatable disorder if there is an option to terminate
c. Ultrasound can be enough
C
Prenatal screening: Amniocentesis is used to detect
chromosomal abnormalities, open NTD
Prenatal screening: Chorion biopsy is used for
Chromosomal abnormalities, DNA and enzyme analysis
Prenatal screening: to detect Placental localization, gestational dating, exclusion of twins,structural malformations
ultrasound scan
Prenatal screening: to detect thalassemias, related disorders
fetal blood and tissue sampling
Prenatal screening: Maternal blood biochemical screening include (4)
AFP
beta-hCG
Estriol
Prenatal Screening: NTD and Down syndrome can be indicated by maternal blood biochemical screening by detecting ____
AFP
Prenatal Screening: beta hCG and estriol in maternal blood biochemical screening may indicate
Down Syndrome
T/F Nuchal lucency in UTZ is specific for Down Syndrome
F
Prenatal screening wherein after cultivation of the embryo to the 8 cell stage, one cell (blastomere), typically, is removed for molecular cytogenetic or molecular genetic analysis
Preimplantation Diagnosis
AIM of Newborn screening include the ff EXCEPT
a. population screening of neonates
b. Identify babies at increased risk of untreatable diseases
c. Disease conditions are not easily detected clinically
d. Diagnosis and early initiation of treatment
e. Are necessary to prevent, delay or reduce disability
B
Newborn Screening Act of 2004 EXCEPT
a. Republic act 9286
b. requires all health facilities to offer newborn screening
c. NBS services is included in licensing rqts for hospitals and birthing facilities
d. health practicitioners has an obligation to inform
A. RA 9288
A positive NBS warrants treatment
T/F
F; confirmatory test first.
Peyton wants to know if he carries the mutation for adult-onset Huntington disease that his father had.
a. Predictive testing
b. Predispositional testing
c. Carrier Testing
d. Prenatal Testing
e. Preimplantation Genetic Diagnosis
f. Genetic Screening
A
Amelia just learned that her brother has adult unset X-linked Dystonia Parkinsonism. She is worried about her young children.
a. Predictive testing
b. Predispositional testing
c. Carrier Testing
d. Prenatal Testing
e. Preimplantation Genetic Diagnosis
f. Genetic Screening
C
Heidi is 39 y.o. and pregnant. Her OB wants her to have a congenital anomaly scan at 5-6 mos AOG
a. Predictive testing
b. Predispositional testing
c. Carrier Testing
d. Prenatal Testing
e. Preimplantation Genetic Diagnosis
f. Genetic Screening
D
Phenotype of the heterozygote is the same as the phenotype of one of the homozygotes
Dominance
Phenotype of the heterozygote is intermediate between phenotypes of two homozygotes
Incomplete Dominance
Phenotype of the heterozygote includes the phenotypes of both homozygotes
Codominance
Percentage of individuals with a given genotype who exhibit the phenotype associated with that genotype
Penetrance
Measures the extent to which a given genotype is expressed in the phenotype
Expressivity
When not every cell in the body has the same DNA; but definitely from one cell line
Mosaicism
Type of mosaicism that affect morphogenesis
Somatic mosaicism
Type of mosaicism wherein sperm/ ova carry DNA change that isn’t present in their other cell types
Germ Cell Mosaicism
Disorders with multifactorial/polygenic inheritance with continuous variation (3)
BP
Height
HC
Disorders with multifactorial/polygenic inheritance with threshold rate (3)
CL/P, pyloric stenosis, CHD
T/F Obesity and Diabetes has Skewed X-inactivation as mode of inheritance
F; multifactorial/Polygenic
T about genetic imprinting
a. one allele may be active and the other inactivated
b. Imprinting occurs in all chromosomes
c. All regions of imprinted chromosomes are methylated
d. A and C
A
TNR sequence of the ff: Huntington Myotonic Dystrophy Fragile X Fredrich's ataxia
Huntington: CAG
Myotonic Dystrophy: CTG
Fragile X: CGG
Friedrich’s Ataxia: GAA
TNR exhibit ______ which means there is clinical correlation to the size of the expansion with a greater expansion causing more severe or earlier age of onset of disease
Genetic anticipation
Gene involved in Fragile X syndrome
FMR1
Normal # of TNR for Fragile X
Below 60
Premutation # of TNR for Fragile X
60-200
of TNR for Fragile X Manifestation
> 200
Submicroscopic deletions too small to be detected by microscopy, 1-3MB long, several contiguous genes. This is called _______
Microdeletions
Examples of microdeltions EXCEPT
a. Williams Syndrome
b. Cri du Chat
c. Jacobsen
d. Myotonic Dystrophy
D
Disease with Encephalomyopathy, lactic acidosis, stroke-like episodes, small stature, migraine, DM
MELAS
MELAS means
Myoclonic epilepsy with lactic acidosis and stroke-like episodes
Disease with ecephalomyopathy, neuropathy, progressive dementia, myoclonic epilepsy with “ ragged red fibers”
MERRE
What does MERRE mean
Myoclonic epilepsy with ragged red fibers, encephalomyopathy
Ophthalmoplegia, pigmentary retinopathy, cardiomyopathy
Kearns-Sayer syndrome
