Week 4 Flashcards
What are the three classes of prenatal diagnosis of genetic disorders?
Invasive Diagnostic Testing
Foetal Visualisation Techniques
Population Screening
List four types of invasive prenatal diagnostic methods for genetic disorders:
Amniocentesis
Chorionic Villus Sampling
Percutaneous Umbilical blood sampling
Preimplantation Genetic Diagnosis
List three methods of foetal visualisation techniques:
Ultrasonography
Radiography
Magnetic Resonance Imaging
Sensitivity is given as a function of true positives, divided by:
True positives + False Negatives
Specificity is given as a function of True negatives, divided by:
True negatives + False Positives
What type of newborn screening test is used to detect protein variants that signal amino acid disorders?
Tandem Mass Spectrometry
Sickle Cell disease
Tay-Sachs disease
Cystic Fibrosis
Phenylketonuria
These disease are detected by what type of screening?
Heterozygote screening
DNA Polymorphisms such as SNPs or STRs can be used as markers in what type of diagnostic tests?
Linkage Analysis
Which molecular screening tool is the most commonly used tool for genetic diagnosis?
Direct Mutation Analysis
A needle passed through the abdomen to collect samples for analysis
describes:
Chorionic Villus Sampling
or
Amniocentesis
Amniocentesis
Which sampling method will provide earlier analysis of foetal DNA:
Chorionic Villus Sampling
or
Amniocentesis?
Chorionic Villus Sampling
NIPS, Non-invasive Prenatal Screening, draws DNA samples from where?
Maternal circulation
Maternal foetal protein will peak lower than the normal value in a test indicative of:
Down Syndrome or Open Spina-Bifida?
Down Syndrome
How early can foetal DNA be detected in the maternal circulation?
6 to 8 weeks post LMP
Prenatal diagnostic analysis of blastomeres indicates Aongenital Adrenal Hyperplasia, which drug is administed to the mother to prevent masculinisation of a female foetus?
Dexamethasone
Does genetic testing reveal mutations, or the presence of disease?
Mutations
in CAH, 21-Hydroxylase deficiency results in a patient unable to produce which two hormones?
Aldosterone, Cortisol
Specialised E.Coli bacteria deprived of phenylalanine are used in a petrie dish alongside blood samples to detect what disorder?
Phenylketonuria
The physical signs of Phenylketonuria are subtle, and mainly present as:
Developmental delay
What is the most common single-gene mutation disorder of carbohydrate metabolism?
Galactosaemia
Which amino acids are unable to be metabolised in maple syrup urine disease?
Leucine, Isoleucine, Valine
which X-linked recessive disease more common in African American males and linked with protection against malaria results in breakdown of red blood cells?
G6PD deficiency
Which genetic disease is linked to eating fava beans and some oxidative drugs?
G6PD deficiency
IRT, Immunoreactive Trypsinogen, is the subject of a diagnostic test for what genetic disease?
CF
Cystic Fibrosis
The person about who’s future offspring the genetic analysis refers, is known as:
The consultand
At the present time, what are the only targets of Gene Therapy?
Somatic Cells
Double stranded DNA is the mechanism of gene therapy in:
Adeno-Associated Vector
or
Adenovirus Vector?
Adenovirus vectors
What is the mechanism of muscle wastage in Pompe disease?
Lysosomes are unable to break down glycogen
Swollen lysosomes disrupt muscle cell function
On what chromosome is the gene GAA encoded, which is responsible for the lysosomal breakdown of glycogen in muscle cells?
17
Transduction of non-dividing cells in gene therapy requires what vector?
Adeno-associated virus
Gene therapy with antisense oligonucleotides corrects for what type of mutations?
Gain of function mutations
Which complex of the electron transport chain does not utilise mitochondrial DNA for its synthesis?
Complex II
Are mitochondrial diseases inherited from the mother, father, or either parent?
Mother
What are the two methods of mitochondrial replacement therapy?
Pronuclear Transfer
Maternal Spindle Transfer
In mitochondrial replacement therapy, in which method is repair carried out before fertilisation?
Pronuclear Transfer
Maternal Spindle Transfer
Maternal Spindle Transfer
In mitochondrial replacement therapy, in which method is repair carried out after fertilisation?
Pronuclear Transfer
Maternal Spindle Transfer
Pronuclear Transfer
in MILS (Maternally-inherited Leigh Syndrome) what is encoded by the affected gene, MT-ATP6?
ATP synthase
In MILS, what type of error occurs with the gene MT-ATP6 which encodes the ATP synthase complex?
Substitution mutation
RNA is probed by Northern or Southern blotting?
Northern
DNA is probed by Northern or Southern blotting?
Southern
Proteins are the subject of:
Southern Blotting
Western Blotting
Northern Blotting?
Western Blotting
Ionising radiation may have the following effect on DNA:
Single or double stranded breaks in DNA backbones
or
Binding of adjacent Thymine bases to one another
Single or double stranded breaks in DNA backbones
Non-ionising radiation may have the following effect on DNA:
Single or double stranded breaks in DNA backbones
or
Binding of adjacent Thymine bases to one another
Binding of adjacent Thymine bases to one another
The subunit formed by DNA wrapped around eight histones is known as a:
Nucleosome
Adenine and Guanine are:
Purines
or
Pyramidines?
Purines
Pairs of sister chromatids are joined by a special DNA sequence known as a:
Centromere
the BRCA1 and BRCA2 genes associated with cancer of the breasts encodes proteins with what funciton?
DNA Repair
On which chromosome is the locus of the genes involved in IGHD Dwarfism?
17
Hereditary non-polyposis colon cancer is also known as:
Leisch Nyhan syndrome
