Remaining Uncertainties in the Human Genome Project Flashcards
Much of the uncertainty relating to the precise total number of functional genes is a result of the necessary extensive use of ____ and analyses by ____ to identify many of the genes rather than the use of experimental testing of gene function in laboratories.
in silico sequence comparisons; complex gene prediction computer programs
The identification of some types of genes within the DNA sequence, especially the ____, which do not possess certain standard sequence motifs (such as start and stop codons) that are usually present in polypeptide - encoding genes
RNA genes
Much additional uncertainty in the human genome relates to the ____ in humans.
Precise functions of several classes of DNA sequence
The functions, quantity and distribution of the various regions of non – coding DNA, such as ____, are not yet completely determined.
long - range transcriptional regulatory sequences
Human genes and genetic disorders that have already been identified are catalogued in the ____ database.
Online Mendelian Inheritance in Man (OMIM) database
Studies how drugs are absorbed, metabolized, and excreted.
Pharmacokinetics
Studies the physiological effects of a drug, such as receptor-binding.
pharmacodynamics
____ can affect not only the way a drug is absorbed, metabolized and excreted (pharmacokinetics) by the body but also the physiological effects of a drug, such as receptor – binding (pharmacodynamics).
Pharmacogenetics
The inter-individual variation in drug response is often due to significant variation in the rates of drug metabolism which is often related to polymorphisms in ____ enzyme such as ____ or ____
cytochrome P450 enzymes; CYP2D6; CYP2C9
The genetically determined drug sensitivity to isoniazid is determined by?
N - acetyltransferase activity and NAT2 gene polymorphisms
Polymorphisms of the NAT-2 gene influences sensitivity to what drug?
Isoniazid
Malignant hyperthermia following exposure to halothane is associated with?
RYR1 mutation
Abnormal sensitivity to suxamethonium/succinylcholine is associated with?
homozygous CHE1 mutations
Sensitivity to the anti - malarial drug primaquine is a result of
glucose - 6 -phosphate dehydrogenase deficiency
Glucose - 6 -phosphate dehydrogenase deficiency leads to sensitivity to what drug?
primaquine
Homozygous CHE1 mutations leads to sensitivity to what drug?
suxamethonium/succinylcholine
RYR1 mutation is associated with what condition?
Malignant hyperthermia following exposure to halothane
The term ____ refers to the incorporation, into this field of pharmacogenetics, of additional information from the Human Genome Project, especially in relation to the increasing number of recognized genetic polymorphisms.
Pharmacogenomics
While the full analysis of the genome is a very significant challenge, an additional challenge is to understand the complexity of the entire protein complement called ____ in a cell, tissue or biological fluid.
proteome
A major area of research, known as _____, now aims to determine the way in w/c the vast number of proteins are generated from less than 25,000 protein - coding genes.
Proteomics
The ongoing study of disease - related qualitative and quantitative changes in tissue and biological fluid proteomes will hopefully identify useful biomarkers of particular conditions such as _____.
bile duct cancer
It is the study of the small molecule metabolites such as metabolic substrates, intermediates and end - products as well as lipids, small peptides, vitamins & cofactors.
Metabolomics
Metabolomics involves techniques such as ____ or _____ and provides an indication of total cell biochemical activity.
mass spectrometry; nuclear magnetic resonance spectroscopy
The study of actively transcribed genes in a given cell type by the determination of mRNA expression levels.
Transcriptomics
