Neonatal Disorders Flashcards
what is epigenetics?
The study of DNA defects other than mutations that effect the function of a gene, but rather that which usually alter the expression of genes. This includes changes in DNA methylation, modification of histone proteins, and the position of nucleosomes
what are imprinted genes?
Imprinted genes are methylated on either the paternal or maternal allele, allowing only their corresponding copy on the opposing allele to be expressed
what is methylation specific PCR?
Involves using a bisulfite conversion to replace unmethylated cytosines with uracil. This changes the DNA template sequence for unmethylated genes, facilitating sequence-dependent, allele-specific PCR
what is pre-eclampsia?
Pregnancy-related disorder characterized by elevated blood pressure, potentially damaging the kidneys, liver and lungs
what is HIV?
Human deficiency virus (HIV) is a retrovirus that infects CD4+ T cells, resulting in the gradual depletion of this population predominantly through targeted elimination of virally-infected T cells by cytotoxic T lymphocytes
How can HIV be transmitted?
This infection can be transmitted horizontally between individuals through infected body fluids, such as blood. Vertical transmission refers to the transfer of infection between a mother and child during prenatal, perinatal or postnatal stages of development.
What is reverse-transcriptase quantitative PCR?
A sensitive method for detecting and quantifying HIV RNA. qPCR refers to quantifying the amount of template presence in the sample by monitoring PCR cycles in real-time, while reverse transcription (RT) refers to the conversation of RNA to DNA prior to PCR.
How do you read reverse-transcriptase quantitive PCR?
Because PCR is exponential, the more template that is initially present in the sample, the fewer cycles it takes to reach a detectable threshold.
What is Phenylketonuria?
A metabolic disorder resulting from mutations in the PAH gene. PAH encodes phenylalanine hydroxylase, a hepatic enzyme responsible for converting that amino acid phenylalanine to tyrosine. Impairment of PAH activity results in the accumulation of phenylalanine, which is converted into neurotoxic phenylketones.
