Introduction to Genetics

What is the study of genes, heredity, and genetic variation in living organisms?

Genetics

Genetics is generally considered a field of biology, but it overlaps many of the life sciences and is strongly linked with the study of _____ ___.

information systems

What is the field of biology that studies the structure and function of genes at a molecular level?

molecular genetics

The study of _______ and gene expression of an organism can give insight into heredity, genetic variation, epigenetics and mutations. This is important for understanding developmental biology and in treating genetic diseases.

chromosomes

______ results from a defect in one or more genes involved in melanin production.

albinism

Albinism is usually ______, meaning a defective gene, not the common form, must be inherited from each parent.

recessive

Name 5 applications of chromosome and genome analysis in clinical medicine:

clinical diagnosis, disease gene identification, cancer genomics, disease treatment, prenatal diagnosis

What describes numerous medical conditions, including some that are common, are associated with changes in chromosome number or structure and require chromosome or genome analysis for diagnosis and genetic counseling?

clinical diagnosis

What describes a major goal of medical genetics and genomics today is the identification of the role of specific genes in health and disease?

disease gene identification

What describes genomic and chromosomal changes in somatic cells involved in the initiation and progression of many types of cancer?

Cancer genomics

What describes understanding the exact molecular basis of each individual's monogenic disorder that allows for targeted therapies to address the condition?

disease treatment

What describes chromosome and genome analysis essential for procedures in prenatal diagnosis?

prenatal diagnosis

Genetics is important to individuals, to society, and to the study of _____

biology

Genes regulate development and control ___ _____

cellular differentiation

A _____ is a complete set of genetic instructions for any organism.

genome

A genome is either ____ or ____ and a coding system for genomic information that is very similar among organisms.

RNA, DNA

What are the 3 divisions of genetics?

Transmission genetics, Molecular genetics, Population genetics

What division of genetics is classical genetics, how traits are passed from one generation to the next?

transmission genetics

What division of genetics is gene structure, function, and regulation?

molecular genetics

What division of genetics is the study of the genetic composition of groups and how gene frequency changes geographically or with time- essentially the study of evolution?

population genetics

Population genetics also encompasses _______, the analysis of the patterns, causes, and effects of health and disease conditions in defined populations.

epidemiology

_____ ______ _____ are organisms with characteristics that make them useful for genetic analysis.

model genetic organisms

What are the model genetic organisms that have been most intensively used for genetic studies?

Fruit fly (Drosphila), E. coli, C. elegans, Arabidopsis, Mus musculus, Yeast (Sachamomyces), Zebrafish (Danio rerio), Maize, Xenopus, dogs, pigs, sheep

What are common characteristics of model organisms?

Short generation time, production of numerous progeny, the ability to carry out controlled genetic crosses, the ability to be reared in a laboratory environment, the availability of numerous genetic variants, and an accumulated body of knowledge about their genetic systems

____ models are only valuable because of the basic biological similarity among all living things.

animal

______ have been very useful in studying the regulation of development

drosophila

____ ___ _____: because the homeobox sequence has remained almost unchanged over millions of years of evolution, homeotic genes appear to play a vital role in the general organization of the body in almost all animals, including worms, flies, birds, mice, and humans.

Hox gene family

_ _____ was the first multicellular organism to have its whole genome sequenced, published in 1998.

C. elegans

The ______ Danio rerio, a model genetic organism, has been instrumental in helping to identify genes encoding pigmentation differences in humans.

zebrafish

What incorrect concept proposed genetic information travels from different parts of the body to reproductive organs?

pangenesis

What incorrect concept proposed acquired traits become incorporated into hereditary information?

inheritance of acquired characteristics

What incorrect concept proposed that miniature organism resides in sex cells and all traits are inherited from one parent?

preformationism

What incorrect concept proposed that genes blend and mix?

blending inheritance

What correct concept proposed that all cells contain a complete set of genetic information?

germ-plasm theory

What correct concept proposed that all life is composed of cells and cells arise only from cells?

cell theory

What correct concept proposed that traits are inherited in accord with defined principles?

mendelian inheritance

_______ in the seventeenth and eighteenth centuries believed that sperm or eggs contained fully formed humans or the homunculus.

preformationists

_____ ____: inherited traits are determined from a range bound by the traits found in the parents. Thus the height of a person, with one short parent and one tall parent, was thought to always be of some interim value between its two parent's heights.

blending inheritance

_______: if an organism changes during life in order to adapt to its environment, those changes are passed on to its offspring.

Lamarckianism

______: it was thought that the information needed to specify body parts traveled to the reproductive organs in packets gemmules which were packaged into sperm or eggs. The packet were then distributed as needed in the resulting embryo.

pangenesis

_____ ____ ____: Multicellular organisms produce germ cells that contain and transmit heritable information, and somatic cells which carry out ordinary bodily functions and do not provide hereditary information.

Theory of Germplasm

Who discovered the principles of heredity?

Gregor Mendel

Who discovered cell theory?

Schleiden and Schwann

Who discovered chromosomes?

Flemming

Who discovered evolution?

Darwin

Who discovered germ-plasm theory?

Weismann

Who discovered genes are located on chromosomes?

Sutton

Who is the director of the National Institutes of Health?

Francis Collins

What was the international, collaborative research program whose goal was the complete mapping and understanding of all the genes in human beings completed and published in April 2003?

The Human Genome Project

What are the fundamental concepts in genetics?

Eukaryotic vs Prokaryotic, Genes are the fundamental unit of heredity, genes come in multiple forms called alleles, genes confer phenotypes, genetic information is carried in DNA and RNA, genes are located on chromosomes, chromosomes separate through mitosis and meiosis, DNA to RNA to protein, mutations can cause permanent changes, some traits are affected by multiple factors, evolution is genetic change

What is a distinct sequence of nucleotides forming part of a chromosome, a unit of heredity that is transferred from a parent to offspring?

Gene

What is one of two or more alternative forms of a gene that arise by mutation and are found at the same place on a chromosome?

allele

What is a threadlike structure of nucleic acids and protein found in the nucleus of most living cells, carrying genetic information in the form of genes?

Chromosome

What is an organism's complete set of DNA, including all of its genes and contains all the information needed to build and maintain that organism?

Genome

What states inheritance in a multicellular organism only takes place by means of the germ cells: the games, such as egg/sperm cells?

germplasm theory

What states changes in gene frequency in a population over time?

Evolution

What are some of the implications of all organisms having similar genetic systems?

That all life forms are genetically related, that research findings on one organism's gene function can often be applied to other organisms, that genes from one organism can often exist and thrive in another organism

What is the primary clinical presentation for children with Fragile X syndrome?

developmental delay and intellectual disability

Which sex is most commonly affected in Fragile X syndrome?

males

______ and ______ analysis has become important diagnostic procedures in clinical medicine.

chromosome, genome