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Cell & Molec > Final > Flashcards

Final Flashcards

1
Q

karyotype

A

the chromosomal composition of an individual

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2
Q

pedigree

A

a chart constructed to show an inheritance pattern within a family through multiple generations

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3
Q

aneuploidy

A

any chromosomal aberration in which there are either extra or missing copies of certain chromosomes

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4
Q

trisomy

A

a type of aneuploidy in which an individual has two copies of each chromosome except for one, which has three copies; designated 2n+1

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5
Q

monosomy

A

a type of aneuploidy in which an individual lacks one member of a pair of chromosomes; designated 2n-1

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6
Q

translocation

A

Chromosome abnormality in which part of one chromosome has become attached to another

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7
Q

deletion

A

the loss of one or more base pairs from DNA, which can result in a frameshift mutation

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8
Q

fragile sites

A

a weak point at a specific location on a chromosome where part of a chromatid appears attached to the rest of the chromosome by a thin thread of DNA

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9
Q

polyploidy

A

the condition of having more than two sets of chromosomes per nucleus; common in plants, rare in animals

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10
Q

genome-wide association scans

A

compare the genomes of individuals with a particular disease to healthy individuals without that disease

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11
Q

disomy

A

the normal condition in which both members of a chromosome pair are present in a diploid cell or organism

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12
Q

nondisjunction

A

abnormal separation of sister chromatids or of homologous chromosomes caused by their failure to disjoin (move apart) properly during mitosis or meiosis

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13
Q

duplication

A

an abnormality in which a set of chromosomes contains more than one copy of a particular chromosomal segment; the translocation form of Down syndrome is an example

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14
Q

inversion

A

a chromosome abnormality in which the breakage and rejoining of chromosome parts results in a chromosome segment that is oriented in the opposite (reverse) direction

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15
Q

amniocentesis

A

sampling of amniotic fluid surrounding a fetus to obtain information about its development and genetic makeup

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16
Q

chorionic villus sampling (CVS)

A

study of extra embrionic celss that are genetically identical to the cells of an embryo, making it possible to assess its genetic makeup

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17
Q

pre-implantation genetic diagnosis (PGD)

A

a physician screens the embryos for one or more genetic diseases before placing a healthy embryo into the woman’s uterus during in vitro fertilization

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18
Q

human genome

A

the totality of genetic information in human cells; includes the DNA content of both the nucleus and mitochondria

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19
Q

What diseases are examples of trisomy 21?

A

Down syndrome and klinefelter syndrome

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20
Q

bioinformatics

A

storage, retrieval, and comparison of DNA

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21
Q

pharmacogenetics

A

drugs customized to an individual

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22
Q

proteomics

A

study of proteins encoded by human genome

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23
Q

genomic/parental imprinting

A

the expression of a gene in a given tissue or developmental stage is based on whether the gene was inherited from the male or female parent

24
Q

What disease is an example of trisomy 13? Trisomy 18?

A

Trisomy 13: Patau Syndrome, trisomy 18: Edward syndrome

25
Q

What two rare genetic disorders can occur due to parental imprinting? Which is associated with which parent?

A

Prader-Willi Syndrome (PWS) is a disorder where individuals become compulsive overeaters and obese, they are also short in stature and mildly to moderately retarded, PWS occurs when the offspring inherits the deletion from the father; In Angelman Syndrome, affected individuals are hyperactive, mentally retarded, and unable to speak, and they suffer from seizures, when the offspring inherits the deletion of several loci from the mother, AS occurs.

26
Q

What is autosomal recessive disorder? What diseases can result from it?

A

autosomal recessive disorder means that two copies of the abnormal gene have to be present in order for the disease or trait to develop; diseases that can result from it are PKU and sickle cell anemia

27
Q

What is autosomal dominant disorder? What diseases can result from it?

A

autosomal dominant disorder means that you only need to get the abnormal gene from one of the parents in order for you to inherit the disease, one of the parents may often have the disease; a disease that can result from this is Huntington’s disease

28
Q

What is X-linked recessive disorder? What diseases can result from it?

A

a x-linked recessive disorder is a genetic disease caused by a gene mutation on the x chromosome (one of the chromosomes that determines the person’s gender, it’s caused when a male inherits the mutated gene from his father or (more rarely) when a woman inherits it from both parents; a disease resulting from this is hemophilia

29
Q

cell determination

A

the developmental process by which one or more cells become progressively committed to a particular fate. Determination is a series of molecular events usually leading to differentiation

30
Q

cell differentiation

A

development toward a more mature state; a process changing a young, relatively unspecialized cell to a more specialized cell

31
Q

morphogenesis

A

the development of the form and structures of an organism and its parts; proceeds by a series of steps known as pattern formation

32
Q

differentiated cells

A

a specialized cell; carries out unique activities, expresses a specific set of proteins, and usually has a recognizable appearance

33
Q

zygote

A

the 2n cell that results from the union of n gametes in sexual reproduction. Species that are not polyploid have haploid gametes and diploid zygotes.

34
Q

nuclear equivalence

A

the concept that the nuclei of all dfiferentiated cells of an adult organism are genetically identical to one another and to the nucleus of the zygoted from which they were derived

35
Q

totipotency

A

a term describing a cell or nucleus that contains the complete set of genetic instructions required to direct the normal development of an entire organism

36
Q

differential gene expression

A

the expression of different subsets of genes at different times and in different cells during development

37
Q

induced pluripotent stem (iPS) cells

A

a term describing a stem cell that can divide to give rise to many, but not all, types of cells in an organism

38
Q

RNA interference (RNAi)

A

phenomenon in which certan small molecules interfere with the expression of genes or their RNA transcripts; RNA interference involves small interfering RNAs, microRNAs, and a few other kinds of short RNA molecules

39
Q

segmentation genes

A

in Drosophila, genes transcribed in the embryo that are responsible for generating a repeating pattern of body segments within the embryo and adult fly

40
Q

gap genes

A

map out the basic subdivisions along the anterior-posterior axis, mutations cause “gaps” in segmentation

41
Q

pair-rule genes

A

divide the embryo into strips, each about two segments wide, and influence activity of segment polarity genes, mutations result in embryos with half the normal segment number

42
Q

segment polarity genes

A

define all segments of body, and divide each segment into anterior and posterior halves, mutations produce embryos with the normal segment number, but with part of each segment replaced by a mirror image repitition of some sort

43
Q

morphogen

A

any chemical agent thought to govern the processes of cell differentiation and pattern formation that lead to morphogenesis

44
Q

homeotic genes

A

a gene that controls the formation of specific structures during development. such genes were originally identified through insect mutants in which one body part is substitued for another

45
Q

homeobox

A

a short (180 nucleotide) sequence that characterizes many homeotic genes as well as some other genes that play a role in development

46
Q

homeodomain

A

a functional region of certain transcription factors; consists of approximately 60 amino acids specified by a homeobox DNA sequence and includes a recognition alpha helix, which binds to specific DNA sequences and affects their transcription

47
Q

hox genes

A

clusters of homeobox-containing genes that specify the anterior-posterior axis of various animals during development

48
Q

mosaic development

A

a rigid developmental pattern in which the fates of cells become restricted early in development

49
Q

induction

A

the process by which the differentiation of a cell or group of cells is influenced by interactions with neighboring cells

50
Q

apoptosis

A

programmed cell death; apoptosis is a normal part of an organism’s development and maintenance

51
Q

chimera

A

an organism consisting of two or more kinds of genetically dissimilar cells

52
Q

ABC model

A

explains how three classes of homeotic genes control the development of the four floral organs; this modely may help explain the thousands of different forms of flowers that have evolved

53
Q

oncogenes, proto-oncogenes

A

oncogene: an abnormally functioning gene implicated in causing cancer; proto-oncogene: a gene that normally promotes cell division in response to the presence of certain growth factors; when mutated, it may become an oncogene, possibly leading to the formation of a cancer cell

54
Q

tumor suppressor gene

A

a gene (also known as an anti-oncogene) whose normal role is to block cell division in response to certain growth-inhibiting factors; when mutated, may contribute to the formation of a cancer cell

55
Q

rmaternal effect genes

A

genes of the mother that are transcribed during oogenesis and subsequently affect the development of the embryo

Cell & Molec (8 decks)

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