Biol564: Molecular Genetics Of Development, Exam 1

Front 1

(this ch contains humans')
CS and GH genes

Back 1

ch 17
(contains these hormone genes)

Front 2

(ch location of)
prolactin gene

Back 2

chromosome 6
(contains this hormone gene)

Front 3

(ch location of murine)
prolactin gene

Back 3

chromosome 13
(contains this murine hormone gene)

Front 4

somatotrophs
(rank where in anterior pit cell populations)

Back 4

most populous
(cell population of the adenohypophysis)

Front 5

(length of)
miRNA

Back 5

22 nucleotides
(is the length of)

Front 6

(define)
gene

Back 6

sequence of DNA in the genome that is required
for the production of a functional product
(defines a)

Front 7

the locus control region
(has this function)

Back 7

(this element of DNA)
establishes proper chromatin context for expression

Front 8

enhancers
(three features)

Back 8

– Position and orientation dependent
– Can be either 5’ or 3’ of start site
– Establishes tissue specificity and level of expression
(three features of a)

Front 9

(three)
promoters

Back 9

– TATA box
– CAT box (CCAAT)
– CpG islands
(are all)

Front 10

cytogenetics
(definition of)

Back 10

the study of chromosomes and structures
(defines)

Front 11

centromere
(define)

Back 11

primary constriction due to kinetocore
(defines)

Front 12

leptotene stage of meiosis I

Back 12

Chromosomes begin to condense, two sister chromatids cannot be distinquished
(describes which stage of the cell cycle)

Front 13

zygotene stage of meiosis I

Back 13

Homologous chromosomes align along their entire length (synapsis and synaptonemal complex)
(describes which stage of the cell cycle)

Front 14

pachytene stage of meiosis I

Back 14

Chromosomes become tightly coiled, meiotic crossing over takes place, synapsis complete, bivalent forms
(describes which stage of the cell cycle)

Front 15

diplotene stage of meiosis I

Back 15

Synaptonemal complex breaks down, bivalent begins to separate, two homologues held together at chiasmata (places of crossover)
(describes which stage of the cell cycle)

Front 16

diakinesis stage of meiosis I

Back 16

Chromosomes reach maximal condensation
(describes which stage of the cell cycle)

Front 17

Metaphase I

Back 17

– Nuclear membrane disappears
-- Paired chromosomes align themselves along equitorial plane
(describes which stage of the cell cycle)

Front 18

Anaphase I

Back 18

– Two members of bivalent move apart
– Attached sister chromatids drawn to opposite poles (disjunction)
– Chromosome number halved (haploid cell)
– Maternal and paternal chromosomes sorted
(describes which stage of the cell cycle)

Front 19

Telophase I

Back 19

– Haploid sets of chromosomes are at opposite poles of cell
(describes which stage of the cell cycle)

Front 20

Oocyte
(define)

Back 20

-- completes meiosis I
– occurs just before ovulation
– Becomes secondary oocyte
– 1st polar body formed
(defines)

Front 21

Secondary oocyte
(describe)

Back 21

-- begins meiosis II
– Proceeds to metaphase stage
– Completes meiosis II upon fertilization
(describes)

Front 22

(synonym for)
multifactorial inheritance

Back 22

(synonym for)
complex traits

Front 23

(define)
chromosome counting

Back 23

the mechanism by which cells determine how many x chromosomes are present and therefore determine how many should be silenced
(defines)

Front 24

(define)
BAC

Back 24

A length of DNA with sequences that allow it to be maintained and reproduced in bacteria
(defines a)

Front 25

(define)
g banding

Back 25

treating chromosomes (cells) with trypsin and giemsa stain to generate bands along the chromosome
(defines what process)

Front 26

karyotype
(defined as)

Back 26

a standard chromosomal set
(is the definition of a)

Front 27

spectral karyotyping
(is defined as)

Back 27

using chromosomal paint to find gross changes in chromosomes
(defines the process known as)

Front 28

(name the three mechanisms for)
viewing spectral karyotyping results

Back 28

epifluorescence microscopy, charge-coupled device (CCD) imaging and fourier spectroscopy
(are used when)

Front 29

telocentric

Back 29

when the centromere is at the very tip of the ch

Front 30

acrocentric

Back 30

when the centromere is not quite centered on the ch

Front 31

metacentric

Back 31

when the centromere is at the center of the ch

Front 32

Constitutional abnormality
(where found, where occurred)

Back 32

– Present in all cells of body
– Abnormal event in sperm, egg or early embryo

Front 33

Somatic (acquired) abnormality

Back 33

– Present in only certain cells of the individual
– Person is mosaic for abnormality

Front 34

Numerical abnormality

Back 34

– Change in chromosome number
– e.g. Polyploidy: triploidy, Aneuploidy: trisomy, Mixoploidy: mosaicism

Front 35

Structural abnormality
(in terms of mutations, is describing what molecular element of the genome)

Back 35

– Change in chromosomal structure
– e.g. Deletion, inversion, ring
(would be described as what type of abnormality)

Front 36

Triploidy and tetraploidy

Back 36

when there are three or four of '''all''' chromosomes

Front 37

Aneuploidy

Back 37

an abnormal number of a single or several chromosomes (just, not all of them being different, then it would be triploidy or tetraploidy)

Front 38

Paracentric inversion

Back 38

an inversion the chromosome that '''does not''' include the centromeric region

Front 39

Pericentric inversion

Back 39

an inversion in the chromosome that includes the centromeric region

Front 40

de novo
(which, when referring to mutations, means)

Back 40

(that the mutation)
occurred in the egg or sperm or just after fertilization
(is referred to as)

Front 41

Acquired (or somatic) mutations

Back 41

occur in cells during a person’s life
--are not passed on to offspring unless in germline cells
(these kinds of mutations are called)

Front 42

missense mutation

Back 42

changes the aa

Front 43

nonsense mutation

Back 43

generates a stop codon

Front 44

Reduced penetrance

Back 44

same mutation in two individuals but no expression in one

Front 45

Variable expressivity

Back 45

trait is expressed more than another

Front 46

Modifying loci

Back 46

interaction between genes that changes expression / inheritance

Front 47

Anticipation

Back 47

when phenotypes occur earlier and more intensely with each generation

Front 48

Genomic imprinting

Back 48

an epigenetic factor that can modify a trait (think methylation)

Front 49

Uniparental disomy

Back 49

when a chromosome is only inherited from one parent (through imprinting or through duplication or something)

Front 50

Allelic heterogeneity

Back 50

Altered function of a gene product because of the existence of different alleles

Front 51

Locus heterogeneity

Back 51

Mutations in one of a group of genes generates multiple alleles, some of which may cause a defect

Front 52

Modifier genes

Back 52

Genes unrelated to a defect that alter proteins that are related to the defect

Front 53

Mosaicism

Back 53

some cells have the abnormality and some cells don't

Front 54

Patau syndrome
(also known as)

Back 54

trisomy 21
(also known as)

Front 55

Epigenetics

Back 55

The study of gene expression and phenotype, including heritable states of differentiated gene expression that are "epi" to the actual sequence. (Functionally, this is DNA methylation and histone modification.)

Front 56

Imprinting

Back 56

when one allele of a gene is expressed preferentially over the other, that is, the gene from one parent's ch is preferentially expressed over the copy from the other parent's ch

Front 57

Prenatal hypotonia

Back 57

fetus doesn't move much

Front 58

holoprosencephaly

Back 58

Hox genes fail to be expressed at midline so there is no symmetry

Front 59

Heteropias

Back 59

neurons cannot migrate properly

Front 60

MeDiP

Back 60

methylation DNA immunoprecipication
(acronym)

Front 61

pharengyeal pouches

Back 61

Turn into thymus, parathyroid, etc.

Front 62

Sensitivity

Back 62

the percent of positives the test determines as positives

Front 63

Specificity

Back 63

the percent of negatives the test determines as negatives

Front 64

Brachy

Back 64

short

Front 65

Onychotillomania

Back 65

pull out finger and toe nails

Front 66

Polyembolokoilamania

Back 66

insert objects into their body, especially the ear

Front 67

Polysomnography

Back 67

sleep study

Front 68

RAI

Back 68

retinoic acid induced

Front 69

Omphalocele

Back 69

Presence of congenital outpouching of the umbilicus containing internal organs in the fetus or newborn infant.

Front 70

Macroglossia

Back 70

Tongue enlargement, leading to functional and cosmetic problems. Glo(ss/tt)- tongue

Front 71

Macrosomia

Back 71

high birth weight

Front 72

Port-wine stain

Back 72

or naevus flammeus is a vascular birthmark consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discolouration of the skin.

Front 73

Hypoplasia

Back 73

defective or incomplete development of an organ or tissue

Front 74

Hemihypertrophy

Back 74

a condition in which one side of the body or a part of one side is larger than the other

Front 75

Apposed

Back 75

the act of positioning close together (or side by side)

Front 76

pterygium colli

Back 76

webbed neck

Front 77

Cubitus valgus

Back 77

a medical deformity in which the elbows are turned in

Front 78

Lymphedemas

Back 78

Edema due to obstruction of lymph vessels or disorders of the lymph nodes

Front 79

Cystic hygroma

Back 79

congenital multiloculated lymphatic lesion that can arise anywhere, but is classically found in the left posterior triangle of the neck

Front 80

Gonadoblastoma

Back 80

a complex neoplasm composed of a mixture of gonadal elements, such as large primordial germ cells, immature Sertoli cells or granulosa cells of the sex cord, and gonadal stromal cells

Front 81

Dysgerminoma

Back 81

Tumour of primitive germ cells in female ovaries. This tumour is identical to seminoma in male testes.

Front 82

Haploinsufficiency

Back 82

One allele doesn't provide enough gene product for correct function.

Front 83

gynecomastia

Back 83

the development of abnormally large mammary glands in males resulting in breast enlargement

Front 84

Chorea

Back 84

brief, abrupt, involuntary movements resulting from a continuous flow of random muscle contractions

Front 85

dysarthria

Back 85

impaired articulatory ability resulting from defects in the peripheral motor nerves or in the speech musculature

Front 86

dysphagia

Back 86

condition in which swallowing is difficult or painful

Front 87

myoclonus

Back 87

Myoclonus is brief, involuntary twitching of a muscle or a group of muscles.

Front 88

hyperflexia

Back 88

overactive or overresponsive reflexes

Front 89

dystonia

Back 89

a neurological movement disorder in which sustained muscle contractions cause twisting and repetitive movements or abnormal postures

Front 90

Nucleoside
(define)

Back 90

base + sugar
(defines)

Front 91

Nucleotide
(define)

Back 91

base + sugar + phosphate
(defines)

Front 92

(charge of)
lysine

Back 92

positive
(is the charge of)

Front 93

(location of)
alpha-family DNA

Back 93

(type of DNA found around)
the kinetocore