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Flashcards in Genetics Deck (110):
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Used to describe a part of the DNA molecule that contains the information needed to code for the types of protein and enzymes

Genes

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Study of heredity

Genetics

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What are the four nitrogenous bases of DNA?

Adenine, cytosine, thymine, guanine

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What does DNA do?

Directs protein synthesis

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What are the two types of DNA?

Nuclear and mitochondrial

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Accumulation of genes from gametes of two parents

Nuclear

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Matrilineal inheritance-descent through the female line

Mitochondrial

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Involved in the actual synthesis of cellular enzymes and proteins

RNA

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Copies the meaningful strand of DNA and carries the message from nucleus to cytoplasm

mRNA

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Copying the meaningful strand of RNA

Transcription

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Selects the appropriate amino acids and carries them to ribosomal RNA

tRNA

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Forms 60% of the ribosome and assembles the proteins

rRNA

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Assembling the proteins

Translation

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Inherited alteration of genetic material

Mutation

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What do mutations result from?

Substitution, loss or addition, or rearrangement of base pairs

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Where might mutations arise?

Somatic or germ cells

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Intracellular structures where genetic information is organized, stored, and retrieved

Chromosomes

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Examples of haploid cells

Ovum and sperm

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Examples of diploid cells

Somatic cells

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Formation of 2 daughter nuclei containing the identical complements of the number of chromosomes characteristic of the somatic cells

Mitosis

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Replication of germ cells that occurs only in gamete producing cells of the ovaries and testes

Meiosis

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What are the four phases of the cell cycle?

Interphase, prophase, anaphase, and telephase

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Actual genetic information

Genotype

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How the genes are expressed

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

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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%

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If one parent is affected and other is not a carrier in autosomal recessive

Children will be unaffected but carriers

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If one parent is affected and the other is a carrier in autosomal recessive

Each child will have 50% chance of being affected

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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

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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

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Who is hemophilia most common in?

Males and is rare in females

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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

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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

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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

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Testing for down syndrome

Prenatal ultrasound, AFP, amniocentesis

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When do you do AFP test?

15-20 weeks

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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

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TORCH-T

Toxoplasmosis

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TORCH-R

Rubella

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TORCH-C

Cytomegalovirus

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TORCH-H

HSV2

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Adenine + Guanine

Purine bases

100

Thymine + Cytosine

Pyrimidine bases

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How many chromosomes in the haploid nucleus?

23

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How many pairs in the diploid nucleus?

23

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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

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Caused by lack of clotting factor 11

Hemophilia C

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How is hemophilia diagnosed?

Measuring the level of factor activity in the blood

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Should people with hemophilia avoid aspirin?

Yes because it effects clotting

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Down syndrome where some cells have 47 chromosomes and some have 46

Mosaicism