Remaining Uncertainties in the Human Genome Project

Question 1

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.

Answer 1

in silico sequence comparisons; complex gene prediction computer programs

Question 2

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

Answer 2

RNA genes

Question 3

Much additional uncertainty in the human genome relates to the ____ in humans.

Answer 3

Precise functions of several classes of DNA sequence

Question 4

The functions, quantity and distribution of the various regions of non – coding DNA, such as ____, are not yet completely determined.

Answer 4

long - range transcriptional regulatory sequences

Question 4

Human genes and genetic disorders that have already been identified are catalogued in the ____ database.

Answer 4

Online Mendelian Inheritance in Man (OMIM) database

Question 5

Studies how drugs are absorbed, metabolized, and excreted.

Answer 5

Pharmacokinetics

Question 6

Studies the physiological effects of a drug, such as receptor-binding.

Answer 6

pharmacodynamics

Question 7

____ 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).

Answer 7

Pharmacogenetics

Question 8

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 ____

Answer 8

cytochrome P450 enzymes; CYP2D6; CYP2C9

Question 9

The genetically determined drug sensitivity to isoniazid is determined by?

Answer 9

N - acetyltransferase activity and NAT2 gene polymorphisms

Question 10

Polymorphisms of the NAT-2 gene influences sensitivity to what drug?

Answer 10

Isoniazid

Question 11

Malignant hyperthermia following exposure to halothane is associated with?

Answer 11

RYR1 mutation

Question 12

Abnormal sensitivity to suxamethonium/succinylcholine is associated with?

Answer 12

homozygous CHE1 mutations

Question 13

Sensitivity to the anti - malarial drug primaquine is a result of

Answer 13

glucose - 6 -phosphate dehydrogenase deficiency

Question 14

Glucose - 6 -phosphate dehydrogenase deficiency leads to sensitivity to what drug?

Answer 14

primaquine

Question 15

Homozygous CHE1 mutations leads to sensitivity to what drug?

Answer 15

suxamethonium/succinylcholine

Question 16

RYR1 mutation is associated with what condition?

Answer 16

Malignant hyperthermia following exposure to halothane

Question 17

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.

Answer 17

Pharmacogenomics

Question 18

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.

Answer 18

proteome

Question 19

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.

Answer 19

Proteomics

Question 20

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 _____.

Answer 20

bile duct cancer

Question 21

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.

Answer 21

Metabolomics

Question 22

Metabolomics involves techniques such as ____ or _____ and provides an indication of total cell biochemical activity.

Answer 22

mass spectrometry; nuclear magnetic resonance spectroscopy

Question 23

The study of actively transcribed genes in a given cell type by the determination of mRNA expression levels.

Answer 23

Transcriptomics