Genetics Flashcards
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0
Q
Study of heredity
A
Genetics
1
Q
Used to describe a part of the DNA molecule that contains the information needed to code for the types of protein and enzymes
A
Genes
2
Q
What are the four nitrogenous bases of DNA?
A
Adenine, cytosine, thymine, guanine
3
Q
What does DNA do?
A
Directs protein synthesis
4
Q
What are the two types of DNA?
A
Nuclear and mitochondrial
5
Q
Accumulation of genes from gametes of two parents
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Nuclear
6
Q
Matrilineal inheritance-descent through the female line
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Mitochondrial
7
Q
Involved in the actual synthesis of cellular enzymes and proteins
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RNA
8
Q
Copies the meaningful strand of DNA and carries the message from nucleus to cytoplasm
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mRNA
9
Q
Copying the meaningful strand of RNA
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Transcription
10
Q
Selects the appropriate amino acids and carries them to ribosomal RNA
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tRNA
11
Q
Forms 60% of the ribosome and assembles the proteins
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rRNA
12
Q
Assembling the proteins
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Translation
13
Q
Inherited alteration of genetic material
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Mutation
14
Q
What do mutations result from?
A
Substitution, loss or addition, or rearrangement of base pairs
15
Q
Where might mutations arise?
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Somatic or germ cells
16
Q
Intracellular structures where genetic information is organized, stored, and retrieved
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Chromosomes
17
Q
Examples of haploid cells
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Ovum and sperm
18
Q
Examples of diploid cells
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Somatic cells
19
Q
Formation of 2 daughter nuclei containing the identical complements of the number of chromosomes characteristic of the somatic cells
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Mitosis
20
Q
Replication of germ cells that occurs only in gamete producing cells of the ovaries and testes
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Meiosis
21
Q
What are the four phases of the cell cycle?
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Interphase, prophase, anaphase, and telephase
22
Q
Actual genetic information
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Genotype
23
Q
How the genes are expressed
A
Phenotype
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Multiple genes contribute to the trait
Polygenic inheritance
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Multiple alleles affect outcome and includes environmental effects
Multifactorial
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Variants in a particular gene
Alleles
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If both alleles are identical
Homozygous
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If alleles are different
Heterozygous
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One allele is more powerful than the other
Dominant
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What pair of chromosomes determine sex?
#23
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What do females contribute?
XX
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What do males contribute?
XY
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When will a recessive allele be evident?
If both alleles are recessive
34
What are most hereditary disorders caused by?
Autosomal defects
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If an hereditary disorder is sex-linked what is it passed through?
X chromosome
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Who is affected in autosomal dominant?
Male and females equally
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If one parent is affected in autosomal dominant what is the chance of offspring being affected?
50%
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If both parents are affected in autosomal dominant what is the chance of offspring being affected?
100%
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What is an example of an autosomal dominant disorder?
Marfan Syndrome
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Causes connective tissue disease
Marfan Syndrome
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What is a physical trait of Marfan Syndrome?
Long tall bodies
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Who is affected in autosomal recessive?
Male and females equally
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If both parents are carriers in autosomal recessive what is the chance of offspring being affected?
25%
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If both parents are effected in autosomal recessive what chance will the offspring have?
100%
45
If one parent is affected and other is not a carrier in autosomal recessive
Children will be unaffected but carriers
46
If one parent is affected and the other is a carrier in autosomal recessive
Each child will have 50% chance of being affected
47
Most common inherited clotting disease that is the least severe
Von Willebrand disease
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Deficiency or defect of a blood clotting protein that helps platelets aggregate
Von Willebrand disease
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Inherited autosomal recessive gene that causes increasing levels of phenylanine hat leads to brain damage
Phenylketonuria (PKU)
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Lipid pigments accumate because of an enzyme deficiency that destroys CNS cells and is usually fatal by age five
Tay-Sachs disease
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Most common fatal genetic disease
Cystic fibrosis
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Results from mutations that do not allow proteins to function correctly
Cystic fibrosis
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What is lacking in cystic fibrosis?
Phenylalanine
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Does cystic fibrosis have a cure?
No
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What are some symptoms of CF?
Viscous mucus secretions, respiratory problems, GI problems, and reproductive problems
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What are some physical appearance changes with CF?
Barrel chest, distended abdomen, and clubbing
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What are diagnostic tests for CF?
Positive sweat test, CXR, stool, DNA testing
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What are ways to manage CF?
Control lung infections, remove secretions, prevent blockages in intestines, provide nutrition, and prevent dehydration
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What is the inheritance of sickle cell anemia?
Homozygous
60
How many African Americans carry abnormal genes for sickle cell?
1/10
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How many black children have sickle cell anemia?
1/400-600
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RBCs look sickled which decreases oxygen carrying and may cause clots
Sickle cell anemia
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Inheritance of genes associated with the X chromosome
X-linked
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Who do males transmit X to?
Daughter not sons
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Who do females transmit X to?
Daughter and son
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Who do x-linked recessive disorders affect?
Males with unaffected parents
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X-linked recessive male disorders
All daughters are carriers and males are unaffected
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What is an example of and x-linked recessive disorder?
Hemophilia
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How do x-linked dominant disorder affect males?
Often lethal
70
Who is hemophilia most common in?
Males and is rare in females
71
Deficiency of factor 8
Hemophilia A
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Deficiency of factor 9
Hemophilia B (Christmas disease)
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What are some symptoms of hemophilia?
Painful swollen joints, limited ROM, spontaneous bleeding, shock like symptoms
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What are the diagnostics for hemophilia?
Coagulation factor, aPTT prolonged, platelets, low factor 8 or 9
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Treatments for hemophilia A
Clotting factors or antihemolitic factors
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Treatment for hemophilia B
Factor 7 or purified factor 9, analgesics, and safety measures
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Linked to both genes and environment
Multifactorial inheritance disorders
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Examples of multifactorial inheritance disorders
Cleft lip/palate or diabetes
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A somatic cell that does not containa multiple of 23 chromosomes
Aneuploidy
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Three copies of one chromosome
Trisomy
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What is usually seen with aneuploidies?
Anomalies
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How many births does down syndrome effect?
1/800
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Risk for down syndrome child at age 20
1/2000
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Risk for down syndrome child at age 49
1/12
85
Chromosome 21 has three copies instead of two
Down syndrome
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What is the mortality rate like in down syndrome children?
High
87
What are other problems that are associated with down syndrome?
Heart problems, club foot, cleft palate of lip, colon enlargement, wide space between 1st and 2nd toes, and dental problems
88
Testing for down syndrome
Prenatal ultrasound, AFP, amniocentesis
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When do you do AFP test?
15-20 weeks
90
Disorder that is present at birth
Congenital disorder
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When do congenital disorders occur?
When developing embryo is subjected to adverse environmental conditions
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When is the period of vulnerability with congenital disorders?
15-60 days
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What can happen when babies are born to cocaine addicted mothers?
Baby can be born addicted
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Why is folic acid deficiency dangerous?
Folic acid helps form RBCs and produce DNA
95
TORCH-T
Toxoplasmosis
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TORCH-R
Rubella
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TORCH-C
Cytomegalovirus
98
TORCH-H
HSV2
99
Adenine + Guanine
Purine bases
100
Thymine + Cytosine
Pyrimidine bases
101
How many chromosomes in the haploid nucleus?
23
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How many pairs in the diploid nucleus?
23
103
What are some main SE of Von Willebrand disease?
Prolonged nosebleeds, heavy periods, prolonged bleeding after surgery
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What kind of diet so PKU people need?
Limited phenylalanine often found in proteins
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What organs are most often effected by sickle cell?
Kidney and spleen
106
Caused by lack of clotting factor 11
Hemophilia C
107
How is hemophilia diagnosed?
Measuring the level of factor activity in the blood
108
Should people with hemophilia avoid aspirin?
Yes because it effects clotting
109
Down syndrome where some cells have 47 chromosomes and some have 46
Mosaicism
