Intro to Genetics

Question 1

the study of chromosome structure and identification of microscopically visible abnormalities. Examination of the ordered array of chromosomes or karyotype

Answer 1

Cytogenetics

Question 2

the study of the structure and function of genes; includes gene mapping and recombinant DNA-based technologies

Answer 2

molecular genetics

Question 3

how genetic defects disrupt normal metabolism/cell control mechanisms; this knowledge is necessary to design the rational treatment of disease

Answer 3

biochemical genetics

Question 4

the study of how allele frequencies increase, decrease or stay the same in a population. allele frequencies are needed in some risk determinations

Answer 4

population genetics

Question 5

diagnosis/detection of inherited disorders; treatment/management; risk assessment; genetic counseling; and pharmacogenetics

Answer 5

clinical genetics

Question 6

What is Mendel’s Law of Segregation?

Answer 6

each individual possesses two genes for a particular characteristic

Question 7

What is Mendel’s Law of Independent Assortment?

Answer 7

Genes can be transmitted independently of each other

Question 8

Situation in which one gene masks the expression of another [Exception to Mendel’s Law of Independent Assortment]

Answer 8

epistasis

Question 9

The greater association in inheritance of two or more nonallelic genes than is to be expected from independent assortment [Exception to Mendel’s Law of Independent Assortment]

Answer 9

linkage

Question 10

the phenomenon whereby the degree to which a gene expresses itself depends upon the parent transmitting it [Exception to Mendel’s Law of Independent Assortment]

Answer 10

genomic imprinting

Question 11

inheritance of a trait encoded in the mitochondrial genome [Exception to Mendel’s Law of Independent Assortment]

Answer 11

Mitochondria1 inheritance

Question 12

when an individual is composed of two or more cell lines in their germ cell population, where these cell lines are of different genetic or chromosomal constitution [Exception to Mendel’s Law of Independent Assortment]

Answer 12

germline mosaicism

Question 13

Genetic disorder stemming from polymorphisms in one gene

Answer 13

single-gene defects

Question 14

Genetic disorder where the defect is due not to a single mistake in the genetic blueprint but to an excess or deficiency of the genes contained in whole chromosomes or chromosome segments

Answer 14

chromosome disorders

Question 15

Inheritance by a combination of genetic factors and in some cases also non-genetic factors, each with only a relatively small effect

Answer 15

multifactorial disorders

Question 16

Vertical transmission of a disease…

Answer 16

inherited

Question 17

A gene or chromosome is involved in the susceptibility to or cause of the disease… (terminology used to describe this)

Answer 17

genetic

Question 18

Indicates no evidence for vertical transmission or familial clustering (terminology)

Answer 18

sporadic

Question 19

Condition present at birth

Answer 19

congenital

Question 20

A trait or disorder which tends to cluster in families

Answer 20

familial

Question 21

X-linked retardation that results in a chromosomal structural aberration. Facial abnormalities.

Answer 21

Fragile X syndrome

Question 22

Gene involved in Fragile X syndrome

Answer 22

FMR1 (fragile x mental retardation)

Question 23

non-staining gap, occasionally observed in characteristic sites on several chromosomes. exhibit gragility as show by the production of acentric fragments and chromosome deletions

Answer 23

fragile site

Question 24

Abnormal chromosome number

Answer 24

aneuploidy

Question 25

A chromosome with a centrally placed centromere

Answer 25

metacentric

Question 26

a chromosome that appears j-shaped at anaphase because the centromere is nearer one end than the other

Answer 26

submetacentric

Question 27

a chromosome with a nearly terminal centromere

Answer 27

acrocentric

Question 28

a chromosome with a terminal chromosome. Does not exist in humans

Answer 28

Telocentric chromosome

Question 29

Any fraction of DNA that differs sufficiently in its base composition from that of the majority of DNA fragments to separate as one or more bands distinct from the bands containing the majority of the DNA during isopycnic CsCL gradient centrifugation

Answer 29

Satellite DNA

Question 30

Repeat length of 7-100 bp; highly polymorphic

Answer 30

minisatellite DNA

Question 31

tandem single, di, tri, and tetranucleotide repeat base pair sequences throughout the genome.

Answer 31

Microsatellite DNA

Question 32

Diseases with Alu sequences involved in deletions

Answer 32

1) Familial hypercholsterolemia 2) Fabry disease 3) Tay-Sachs disease 4) ADA deficiency

Question 33

Diseases with insertions of Alu sequences

Answer 33

1) Neurofibromatosis | 2) Hemophilia B

Question 34

Disease with insertions of Line-1 elements

Answer 34

Hemophilia A

Question 35

Which chromosome is the longest?

Answer 35

Chromosome 1

Question 36

Which chromosome is the shortest?

Answer 36

Chromsome 22

Question 37

What is PHA?

Answer 37

It's a mitogen, added ti stimulate cell division for preparing chromosomes for karyotyping

Question 38

What are the two nuclear stains we learned about?

Answer 38

Giemsa (G) or Quinacrine (Q)

Question 39

"8q13" -- what does 8 refer to?

Answer 39

Chromosome 8

Question 40

"8q13" -- what does q refer to?

Answer 40

Long arm

Question 41

"8q13" -- what does 1 refer to?

Answer 41

region 1

Question 42

"8q13" -- what does 3 refer to?

Answer 42

band 3

Question 43

Pre-treat cells with trypsin to denature the protein, stain, and view chromosomes under normal light photo-microscopy

Answer 43

Giemsa (G) banding

Question 44

Fluorescent dye inds to A-T rich regions preferentially. Bands are viewed and photographed by fluorescent microscopy

Answer 44

Quinacrine (Q) banding

Question 45

What kind of banding is preferred when the chromosomes are relatively uncondensed in prophase or earlier?

Answer 45

High Resolution Banding

Question 46

AT-rich with few expressed genes. Rich in L1 repeated sequences (this is a band)

Answer 46

G-dark bands

Question 47

GC-rich with many expressed genes. Rich in Alu repeated sequences

Answer 47

G-light bands

Question 48

Labeled chromosome-specific DNA segment (probe) is hybridized with metaphase, prophase or interphase chromosomes and visualized under a fluorescent microscope.

Answer 48

Fluorescent in situ hybridization (FISH)

Question 49

Uses multiple fluorescent probes specific for sequences on each chromosome to generate a specific color for each chromosome along most of its length.

Answer 49

Spectral Karyotyping (SKY)

Question 50

DNA from test source is labeled with green fluorophore and control normal DNA is labeled with a red fluorophore. Both samples mixed and hybridized to nromal metaphase chromosomes. Alterations will affect the green to red ratio. Used in cancer.

Answer 50

Comparative Genomic Hybridization (CGH)

Question 51

Uses a massively parallel hybridization technology to test the abundance of sequences spaced throughout the genome.

Answer 51

DNA Microarrays