Genetics 1-7

The scientific study of heredity

Any observable property of an organism

• The fundamental unit of heredity and the basic structural and functional unit of genetics
• -composed of DNA
• -direct the formation of proteins

A helical molecule consisting of two strands of nucleotides that is the primary carrier of genetic informationDeoxyribose Nucleotide subunitsAdenine, thymine, guanine, or Cytosine

the branch of genetics concerned with the mechanisms by which genes are transferred from parent to offspring

the construction of family trees and their use to follow the transmission of genetic traits in humans

the branch of genetics that studies the organization and arrangement of genes and chromosomes by using the techniques of microscopy

a complete set of chromosomes from a cell that has been photographed during cell division and arranged in a standard sequence (chart arranged in order of size and centromere position)

the study of genetic events at the biochemical level-uses recombinant DNA technology to identify, isolate, clone, and analyze genes-tremendous impact in last 40 years-debate over social, legal, and ethical issues

a series of techniques in which DNA fragments from an organism are linked to self-replicating vectors to create recombinant DNA molecules, which are replicated or cloned in a host cell

genetically identical molecules, cells, or organisms, all derived from a single ancestor

the set of DNA sequences carried my an individual (all the genes present in an organism plut other DNA sequences that do not encode genes)

the study of the organization, function, and evolution of genomes

procedure in which normal genes are transplanted into humans carrying defective copies, as a means of treating genetic diseases

the branch of genetics that studies inherited variation in populations of individuals and the forces that alter gene frequency

the attempt to improve the human species by selective breeding

the mistaken idea that human traits are determined solely by genetic inheritance, ignoring the contribution of the environment

single nucleotide differences between and among individuals in a population or species

a set of genetic markers located close together on a single chromosome or chromosome region

Analysis of genetic variation across an entire genome searching for associations (linkages) between variations in DNA sequence and a genome region encoding a specific phenotype

The use of recombinant DNA technology to produce commercial goods and services

large cellular polymers assembled by chemically linking monomers together

macromolecules including sugars, glycogen, and starches composed of sugar monomers linked and cross-linked (energy)

A class of cellular macromolecules including fats and oils that are insoluble in water (membranes)

A class of cellular macromolecules composed of amino acid monomers linked together and folded into a three-dimensional shape (structures & enzymes)

A class of cellular macromolecules composed of nucleotide monomers linked together. there are two types- DNA and RNA, which differ in the structure of the monomers (genetic materials)

structures composed of two or more atoms held together by chemical bonds

cytoplasmic structures that have a specialized function

a system of cytoplasmic membranes arranged into sheets and channels whose function it is to synthesize and transport gene products

Cytoplasmic particles that aid in the production of proteins

Membranous organelles composed of a series of flattened sacs. They sort, modify, and package proteins synthesized in the ER-final protein folding; stores secreted material; forms sugars, glycoproteins and glycolipids; vesicles of material are released

Membrane-enclosed organelles in eukaryotic cells that contain digestive enzymes (Tay-sacs = lysosome disorder)

membrane-bound organelles, present in the cytoplasm of all eukaryotic cells, that are the sites of energy (ATP) production-has its own circular DNA, inherited from mother

The (double-layered nuclear membrane) membrane-bound organelle in eukaryotic cells that contains the chromosomes

a nuclear region that functions in the synthesis of ribosomes

The DNA and protein components of chromosomes, visible as clumps or threads in nuclei

the threadlike structures in the nucleus that carry genetic information

in humans, the X and Y chromosomes that are involved in sex determination

Chromosomes other than the sex chromosomes. In humans, chromosomes 1-22 are autosomes

the sequence of events that takes place between successive mitotic divisions

the period of time in the cell cycle between mitotic divisions-prepare for cell division; replicates DNA; composed of G1, S, G2; Cells may progress to mitosis or enter G0; quiescent phase

form of cell division that produces two cells, each of which has the same complement of chromosomes as the parent cell

the process of cytoplasmic division that accompanies cell division

A stage in mitosis during which the chromosomes become visible and contain sister chromatids joined at the centromere

a region of a chromosome to which spindle fibers attach during cell division. the location of a centromere gives a chromosome its characteristic shape

Two chromatids joined by a common centromere. each chromatid carries identical genetic information

a stage in mitosis during which the chromosomes become arrange near the middle of the cell

a stage in mitosis during which the centromeres split and the daughter chromosomes begin to seperate

The last stage of mitosis, during which the chromosomes of the daughter cells decondense and the nucleus re-forms, spindle disappears

The process of cell division during which one cycle of chromosomal replication is followed by two successive cell divisions to produce four haploid cells

The condition in which each chromosome is represented twice as a member of a homologous pair

The condition in which each chromosome is represented once in an unpaired condition

Chromosomes that physically associate (pair) during meiosis. Homologous chromosomes have identical gene loci

the result of meiosis I that puts random combinations of maternal and paternal chromosomes into gametes

A process in which chromosomes physically exchange parts

One of the possible alternative forms of a gene, usually distinguished from other alleles by its phenotypic effects-different alleles result from mutations

mitotically active cells in the gonads of males that give rise to primary spermatocytes

the four haploid cells produced by meiotic division of a primary spermatocyte

mitotically active cells that produce primary oocytes

the large cell produced by the first meiotic division

a cell from which and ovum develops by meiosis

haploid cell produced by meiosis that becomes the functional gamete

Cells produced in the first and second meiotic division in female meiosis that contain little cytoplasm and will not function as gametes

the trait expressed in the F1 (or heterozygous) condition

the trait unexpressed in the F1 but re-expressed in some members of the F2 generation.

the observable properties of an organism

the specific genetic constitution of an organism

the separation of members of a gene pair from each other during gamete formation

having identical alleles for one or more genes

carrying two different alleles for one or more genes

the random distribution of alleles into gametes during meiosis

the position occupied by a gene on a chromosome

use of family history to determine how a trait is inherited and to estimate risk factors for family members

a diagram listing the members and ancestral relationships in a family; used in the study of human heredity

first affected family member who seeks medical attention for a genetic disorder

expression of a phenotype that is intermediate to those of the parents

full phenotypic expression of both members of a gene pair in the heterozygous condition

genes that have more than two alleles

the interaction of two or more non-allelic genes to control a single phenotype

a group of interbreeding individuals who possess a particular collection of alleles or gene pool

3 billion base pairs of DNA28,000 to 34,000 genesorganized as 23 pairs of chromosomes (22+ X&Y)

changes on the DNA

majority of an individual's body, make proteins using different subsets of genes

within the testis or ovary produce gametes (sperm or ovum)

lack a nucleus

contain a nucleus and complex organelles

>260 cellsFour catergories:Epithelial, muscle, nerve, conncetive

contain several types of enzymes; break down lipids and rare biochemicals; synthesize bile acids; detoxify compounds from free radicals; abundunt in liver and kidney cells; Adrenoleukodystrophy (ALD)= inherited trait of a peroxisome enzyme transport protein

double layered, dynamic and active, selectively permeable, regulates exchange of materials, contains molecules important in identity

DNA synthesis

gap for growth

cell stops dividing

cell death that is part of normal development

cell death in response to injury

located at the end of chromosomes, contain 100s to 1000s of six nucleotide repeats, lose 50-200 repeats after each division, signal cell to stop dividing after about 50 divisions

produced by sperm, eggs, bone marrow, and cancer cells; prevents shortening of telomeres

-heterozygotes exhibit the affected phenotype; males and females are equally affected and may transmit the trait; affected phenotype does not skip generations

heterozygotes carry the recessive allele but exhibit the wildtype phenotype; males and females are equally affected and may transmit the trait; may skip generations

males are hemizygous, have trait or do not because they only have one X chromosomeFemales can be heterozygotes and inherit x chromosomes from both parents

always expressed in males, female homozygotes show the trait but heterozygotes do not

an often fatal recessive genetic disorder associated with abnormal secretions of the exocrine glands

the pattern of inheritance that results from genes located on the X-chromosome

the pattern of inheritance that results from genes located on the Y-chromosomes

a gene present on the x chromosome that is expressed in males in both the recessive and the dominant conditions

Defective color vision caused by reduction or absence of visual pigments. There are three forms: red, green, and blue blindness

A group of genetic diseases associated with progressive degeneration of muscles. Two of these, Duchenne and Becker muscular dystrophy, are inherited as X-linked allelic recessive traits

An autosomal dominant disorder associated with progressive neural degeneration and dementia. Adult onset is followed by death 10-15 years after symptoms appear

The probability that a disease phenotype will appear when a disease-related genotype is present.

the range of phenotypes resulting from a given genotype

a dominant human genetic trait that is expressed as immobile, bent, little fingers

phenotypes that fall into two or more distinct nonoverlapping classes

a distribution of phenotypic characters that is distributed from one extreme to another in an overlapping, or continuous, fashion

traits controlled by multiple genes, the interaction of genes with each other, and with environmental factors where the contributions of genes and environment are undefined

traits controlled by two or more genes

traits controlled by two or more genes

the phenotypic variance of a trait in a population that is attributed to genotypic differences

An expression of how much the observed variation in a phenotype is due to differences in genotype

An expression of how much the observed variation in a phenotype is due to differences in genotype

Measures the degree of interdependene of two or more variables

twins derived from a single fertilization involving one egg and one sperm, such twins are genetically identical

twins derived from two separate and nearly simultaneous fertilizations, each involving one egg and one sperm. Such twins share, on average, 50% of their genes

agreement between traits exhibited by both twins

a hormone produced by fat cells that signals the brain and ovary. As fat levels become depleted, secretion of leptin slows and eventually stops

A score derived from standardized test that is calculated by dividing the individual's mental age (determined by the test) by his or her chronological age and multiplying the quotient by 100

Characteristics that include verbal and spatial abilities, memory, speed of perception, and reasoning

describes a chromosome that has a centrally placed centromere

describes a chromosome whose centromere is placed closer to one end than the other

describes a chromosome whose centromere is placed very close to, but not at, one end

a method of sampling the fluid surrounding the developing fetus by inserting a hollow needle and withdrawing suspended fetal cells and fluid; used in diagnosing fetal genetic and developmental disorders; usually performed in the sixteenth week of pregnancy

A method of sampling fetal chorionic cells by inserting a catheter through the vagina or abdominal wall into the uterus. Used in diagnosing biochemical and cytogenetic defects in the embryo. Usually performed in the eighth or ninth week of pregnancy

a chromosomal number that is a multiple of the normal haploid chromosomal set

a chromosomal number that is not an exact multiple of the haploid set

a condition in which one member of a chromosomal pair is missing; having one less than the diploid number

a condition in which one chromosome is present in three copies, whiereas all others are diploid; having one more than the diploid number

a chromosomal number that is three times the haploid number, having three copies of all autosomes and three sex chromosomes

a chromosomal number that is four times the haploid number, having four copies of all autosomes and four sex chromosomes

The failure of homologous chromosomes to separate properly during meiosis or mitosis

Aneuploidy involving the presence of an extra copy of chromosome 21, resulting in down syndrome

A Monosomy of the x chromosome (45,x) that results in female sterility

aneuploidy of the sex chromosomes involving an xxy chromosomal consitution

Aneuploidy of the sex chromosomes involving an xxy chromosomal condition

a deletion of the short arm of chromosome 5 associated with an array of congenital malformations, the most characteristic of which is an infant cry that resembles a meowing cat

a condition in which both copies of a chromosome are inherited from one parent

A dna segment at least 1000 base pairs long with a variable copy number in the genome

An X chromosome that carries a gap, or break, at band q27; associated with mental retardation in males

the fertilized egg that develops into a new individual

unfertilized germ cells

organs where gametes are produced

male gonads that produce spermatozoa and sex hormones

female gonads that produce oocytes and female sex hormones

a pouch of skin outside the male body that contains the testes

small, tightly coiled tubes inside the testes where sperm are produced

the process of sperm production

a part of the male reproductive system where sperm are stored

a duct connected to the epididymis which sperm travels through

in males, a short connector from the vas deferens to the urethra

a tube that passes from the bladder and opens to the outside. It functions in urine transport and, in males, also carries sperm

Glands in males that secrete fructose and prostaglandins into the semen

locally acting chemical messengers that stimulate contraction of the female reproductive system to assist in sperm movement

a gland that secretes a milky, alkaline fluid that neutralizes acidic vaginal secretions and enhances sperm viability

glands in the male that secret a mucus-like substance that provides lubrication for intercourse

a mixture of sperm and various glandular secretions containing 5% spermatozoa

developing egg surrounded by an outer layer of follicle cells, contained in the ovary

a duct with fingerlike projections partially surrounding the ovary and connecting to the uterus. Also called the fallopian, or uterine, tube

a hollow pear-shaped muscular organ where an early embryo will implant and develop throughout pregnancy

the inner lining of the uterus that is shed at menstruation if fertiliztion has not occured

the lower neck of the uterus, opening into the vagina

that opening that receives the penis during intercourse and also serves as the birth canal

the process of oocyte production

cells that produce primary oocytes by mitotic division

a two layered structure formed during embryonic development from the trophoblast

any physical or chemical agent that brigns about an increase in congenital malformations

constellation of birth defects caused by maternal alcohol consumption during pregnancy

the proportion of male to females, which changes throughout the life cycle. The ratio is close to 1:1 at fertilization, but the ratio of females to males increases as population ages

A gene, called the sex-determining region of the Y, located near the short arm or the y chromosome that plays a major role in causing the undifferentiated gonad to develop into a testis

A steroid hormone produced by the testis; the male sex hormone

A hormone produced by the devloping testis that causes the breakdown of the mullerian ducts in the embryo

an x linked genetic trait that causes XY individuals to develop into phenotypic females

an autosomal genetic condition that causes xy individuals to develop the phenotypic sex of females

a mechanism that regulates the expression of sex linked genes

a densely staining mass in teh somatic nuclei of mammalian females; an inactivated x chromosome

the proposal that dosage compensation in mammalian females is accomplished by partially and randomly inactivating one of the two x chromosomes

a region on the x chromosome where inactivation begins

traits controlled by autosomal genes that are usually dominant in one sex but recessive in the other sex

a sex influenced trait that acts like an autosomal dominant trait in males and an autosomal recessive trait in females

loci that produce a phenotype in only one sex

a phenomenon in which expression of a gene depends on whether it is inherited from the mother of the father