Unit 4 test Flashcards
(113 cards)
1
Q
used when referring to a single gene
A
genetics
2
Q
used when referring to the whole genome, multiple genes, gene-gene interaction
A
genomics
3
Q
a persons unique genetic makeup
A
genotype
4
Q
a basic unit of hereditary and composed DNA, which regulates the rate proteins are made, and the type that are made
A
a single gene
5
Q
how many genes can a single person have
A
30-40 thousand genes
6
Q
what is the observable characteristics that somebody carries
A
phenotype
7
Q
example of phenotype
A
somebody having brown hair hazel eyes
8
Q
what is determined by the genes on the chromosomes
A
traits
9
Q
what are the DNA bases
A
A-T and C-G
10
Q
A goes with
A
T
11
Q
G goes with
A
C
12
Q
what is the pneumonic for the DNA bases
A
always together good couple
13
Q
the observable characteristics of a __________ is termed ___________, hair color, weight, presence or absence of a disease
A
genotype; phenotype
14
Q
what constitutes the individuals genotype
A
at each locus, except for sex chromosomes, there are 2 genes and these constitute the individuals genotype
15
Q
what are the genetic blueprints for cell development
A
DNA and RNA
16
Q
both DNA and RNA are
A
nucleic acids
17
Q
where is DNA mainly found and what does it carry
A
found in nucleus and mitochondria; carries the genetic code
18
Q
what does RNA transcribe from DNA and where does it carry it to
A
transcribes genetic code from DNA; carries the code to the cells cytoplasm
19
Q
RNA makes
A
proteins
20
Q
the messenger that transcribes and makes proteins (happens in the cytoplasm)
A
RNA
21
Q
where does DNA store the genetic code
A
mitochondria
22
Q
double helix
A
DNA
23
Q
what proteins provide energy for the shape of the DNA
A
histone proteins
24
Q
p is the
A
short arm
25
q is the
long arm
26
what is in the middle of the p and q arms
centromere
27
P and Q arms are located on the
chromosome
28
a basic unit of genetic information that determines the inherited characteristics
gene
29
the collection of genetic information
genome
30
how many pairs of chromosomes are there
23
31
how many chromosomes are located in the nucleus
46
32
chromosomes are the storage units of
genes
33
all men and women have at least _____ chromosomes
22
34
what is the 23 chromosome determine
sexual orientation
35
at what point does each parent give a pair of chromosomes to their child
conception
36
the egg and sperm each have
23 chromosomes
37
chromosome pairs 1-22 are called
autosomes
38
how are genes organized
in a linear fashion along chromosomes
39
in the 23rd chromosome pair what is the sex orientation if it is XX
females
40
in the 23rd chromosome pair what is the sex orientation if it is XY
males
41
what is a persons chromosomal make up called
karyotype
42
a normal male chromosome pattern would be
46, XY which means 46 total number of chromosomes and XY sex chromosome constitution
43
location of a gene/marker on the chromosome
locus
44
one variant form of a gene/marker at a particular locus
allele
45
alleles are located by letters, to determine if they are
dominant or recessive
46
homozygous means
alike
47
heterozygous means
different
48
the human genome has how many pairs of chromosomes not including the sex chromosomes
22 pairs (autosomes)
49
when the alleles on a pair of chromosomes are _______ the person is called ______ for the trait
identical; homozygous
50
if the alleles are ______ then the person is _______ for the trait
different; heterozygous
51
what are the two main things to know for cellular reproduction
meiosis and mitosis
52
formation of gametes, reduction division from sperm and egg cells
meiosis
53
nuclear division of somatic cells, cellular division
mitosis
54
has 4 daughter cells, 23 chromosomes each
meiosis
55
has 2 daughter cells, 46 chromosomes each
mitosis
56
in chromosome division a two step cell division process that occurs in cells that generate sperm and egg cells is called
meiosis
57
what is 22 pairs of autosomes called
haploid
58
if you add one pair of games sperm and egg cells, XX XY) what would the end result be
44+2= 46 DIPLOID
59
an alteration or change in genetic material is
a mutation
60
a mutation is usually _______ and passed through from parents and present in all the childs _____
inherited; cells
61
when does mutation arise
exposure to mutagenic agents but mostly from errors in DNA replication/repair
62
a spontaneous mutation occurs
during conception and can pass it on form then on
63
acquired mutation occurs
after conception, results in changes in body cells other than egg and sperm
64
what are examples of gene mutations
cancer and alzheimers
65
recombination is when
crossing over can allow homologous chromosomes to exchange secretions of genetic material (during meiosis)
66
a separation error during meiosis can cause what two things
monosomy and trisomy
67
resulting zygote has one copy of a chromosome
monosomy
68
resulting zygote has three copies of a chromosome
trisomy
69
an extra chromosome 21, trisomy 21 causes
down syndrome
70
when do the chances of having a down syndrome child increase
with maternal age
71
chromosomal material can break off and attach itself to another chromosome is a process called
translocation
72
what are some chromosomal abnormalities
translocation, deletion or duplication, increased maternal aging, trisomies
73
what does trisomy 21 cause (other than down syndrome)
down syndrome
edwards syndrome
turners sundrome
74
what are examples of trisomy 21
47XX plus 21
| 47XY plus 21
75
when studying rare disorders what are the 6 general patterns of inheritance observed
1. autosomal recessive
2. autosomal dominant
3. X-linked recessive
4. X-linked dominant
5. Codominant
6. mitochondrial
76
what are 4 modes of inheritance
multifactorial conditions (genes and environment)
single gene condition
mitochondrial
chromosomal conditions
77
medel's law is the principle of
dominance
78
a dominant allele is expressed even if it is paired with a
recessive allele
79
when is a recessive allele visible
when paired with another recessive allele
80
affected males and females appear i each generation of the pedigree
autosomal dominant
81
affected mother and fathers transmit the phenotype to both sons and daughters
autosomal dominant
82
the disease appears in male and female children of unaffected parents, skips a generation
autosomal recessive
83
breast cancer and hunting tons disease is known as
autosomal dominant
84
sickle cell anemia and cystic fibrosis is known as
autosomal recessive
85
horizontal pattern=
recessive
86
vertical pattern=
dominant
87
may more males than females show the disorder
all the daughters of an affected male carries
none of the sims of an affected male show the disorder or are carriers
x-linked recessive
88
affected males pass the disorder to all daughter, but to none of their sons
affected heterozygous females married to unaffected males pass the condition to half of their sons and daughters
x-linked dominant
89
blood type is
co-dominant
90
when women with condition caused by mutations in mitochondrial DNA pass some of the mutated DNA to their offspring
mitochondrial inheritance
91
conditions involving mitochondrial DNA mutations tend to involve what parts of the body
skeletal muscle, heart muscle and the brain
92
do both the ova (egg) and sperm contain mitochondria??
no just the ova
93
can appear in every generations of a family and can affect both male and females, but fathers do not pass mitochondrial traits to their children
mitochondrial inheritance
94
as the trait or disease is given to generation it gets worse and worse
non-mendelian
95
occurs when a child inherits both alleles from a single parent
uniparental
96
occurs when genes from one parent are not expressed equally
imprinting
97
during early development a mutation may occur in a germline cell, egg or sperm and pass to descendants of that cell
non-menelian germline mosaicism (OCCURS ONLY IN DEVELOPMENT)
98
can have a genetic component or an environmental factor
multifactoral
99
what are examples of multifactoral
congenital heart defects, neural tube defects, diabetes
100
what is a prenatal genetic screening
identifies if a woman is at higher than average risk than other women of having a baby with certain genetic conditions
101
targeted therapy matches the treatment to specific malfunctioning genes express
personalized genomic treatments
102
drug metabolism in the absorption, distribution, drug cell interaction, inactivation, and excretion is
pharmacokinetics
103
cell receptors and cell signaling control the drug effect in the cell
pharmacodynamics
104
a diagnostic test actually DIAGNOSES or CONFIRMS a condition
prenatal genetic diagnostic testing
105
includes ultrasound, amniocentesis, chorionic villus sampling, carrier testing, preimplantation diagnosis, predictive testing
prenatal genetic diagnostic testing
106
genetic analysis of embryos from invitro fertilization before inserting into the womb
preimplantation genetic diagnosis (PGD)
107
when did newborn screening begin in the U.S.
1961 when testing for
108
what are the benefits of genetic diagnostic testing
- identify a fetus or individual at risk for genetic condition
- enable parents and providers to consider prenatal diagnostic options when fetus is at risk
- relieve uncertainty
109
what are the risk of genetic diagnostic testing
- hard for individuals and families to handle
| - may negatively affect family dynamics and interpersonal relationships
110
what are the limitations of genetic diagnostic testing
- cannot provide a definite answer for everyone at risk for inherited condition
- cannot always predict likelihood of disease
- cannot always predict the severity of a disease
111
what are the 3 A's when it comes to genetic condition
Alert
Ask
Act
112
what are the general clues to know (ALERT)
- disorders occurring at younger age
- sudden cardiac deaths of healthy individual
- 3 or more preg losses
- medical probs in children of parents related to blood
- multiple closely related people with same condition
113
what is the appropriate information to be collected (ASK)
- clarify medical conditions within the family
- major medical, physical or mental health problems
- has anyone ever needed treatment in the hospital
