III ways body is protected
Normal body structures function to block the entry of germs through the use of tears, mucous membranes,
intact skin, cilia, and body pH
2. Inflammatory response rushes leukocytes to a site of infection, where the invading organisms are engulfed
and destroyed in a process called phagocytosis
3. Specific immune responses of the body react to foreign antigens to protect and defend against disease
Illness VS. Disease
Illness - describes the condition of a person who is experiencing a disease. (individual & personal)
Disease - known by its medical classification and distinguishing features
Disease is easier to treat than illness
Predisposing Factor
A condition or situation that may make a person more at risk or susceptible to disease
EX. Age, Gender, External environment, Lifestyle choice
Hereditary
Predisposing factor when a trait inherited from a parent puts an individual at risk for certain diseases
Not easily controlled, changed, or altered
EX. Cystic fibrosis, sickle cell anemia & trisomy 21 (Down Syndrome)
Hereditary Disease
Result of a person's genetic makeup
DNA
Incorporated in structures called chromosomes
-46 chromones in human (23 pairs)
Gene
Basic unit of heredity
Homozygous
Possess identical genes from each parent for a particular trait and when they are both dominant
Heterozygous
Possess different genes from each parent for a particular trait and if one gene is dominant and one is
recessive
Genotype
Description of the combination of a person's genes with respect to either a single of a larger set of traits
, Phenotype
Observable physical characteristics
Mutations
Changes in the structure of genes
-May cause disturbances in body functions
-Occurs when the normal sequence of DNA units is disrupted
Monogenic (Mendelian) Disorders
Caused by a mutation in a single gene
Classified as: autosomal dominant, autosomal recessive, X- or sex-linked, chromosomal, multifactorial
Autosomal Dominant
Only one abnormal gene from a parent is needed
EX. Huntington disease - genetic defect on chromosome 4, deterioration of neurons. Uncontrolled
movements, emotional disturbances, mental detereroation
Retinoblastoma - Rare type of eye cancer that develops in the retina
Autosomal Recessive
Must be 2 copies (both parents) of the abnormal gene
Ex. Cystic fibrosis - Affects cells that produce sweat, mucus, and digestive juices
X- or Sex-linked
Occur when a single abnormal gene on the X chromosome can cause a disease; this abnormal gene
dominates the gene pair. Occurs when both of the genes in a pair are abnormal
EX. Hemophilia - Rare bleeding disorder because by deficiency of specific types of serum proteins caused
clotting factors
Duchenne muscular dystrophy - Manifests as a progressive bilateral wasting of skeletal muscles in males.
Symptoms appear in age 2-5
Chromosomal Disorders
Caused by abnormalities in the number of chromosomes or by changes in chromosomal structure, such as
additions (more), deletions (missing genes), or translocations (genes shifted from one chromosome to
another or to a different location on the same chromosome)
EX. Klinefelter syndrome - Additional X chromosome in males. Body shape is elongated, small tests,
mammary glands are abnormally large. Men don't produce sperm.
Turner 21 - Caused by loss or incomplete X chromosome in either the ovum or sperm. Only affects females.
Shortened stature, swollen hands & feet, coarse & elongated ears. Most females are infertile
Trisomy 21 - Individual has 3 copies of chromosome 21 instead of 2. Sloping forehead, folds of skin over the
inner corner of the eyes. Moderate to severe mental disabilites
Normal body structures function to block the entry of germs through the use of tears, mucous membranes,
intact skin, cilia, and body pH
2. Inflammatory response rushes leukocytes to a site of infection, where the invading organisms are engulfed
and destroyed in a process called phagocytosis
3. Specific immune responses of the body react to foreign antigens to protect and defend against disease
Illness VS. Disease
Illness - describes the condition of a person who is experiencing a disease. (individual & personal)
Disease - known by its medical classification and distinguishing features
Disease is easier to treat than illness
Predisposing Factor
A condition or situation that may make a person more at risk or susceptible to disease
EX. Age, Gender, External environment, Lifestyle choice
Hereditary
Predisposing factor when a trait inherited from a parent puts an individual at risk for certain diseases
Not easily controlled, changed, or altered
EX. Cystic fibrosis, sickle cell anemia & trisomy 21 (Down Syndrome)
Hereditary Disease
Result of a person's genetic makeup
DNA
Incorporated in structures called chromosomes
-46 chromones in human (23 pairs)
Gene
Basic unit of heredity
Homozygous
Possess identical genes from each parent for a particular trait and when they are both dominant
Heterozygous
Possess different genes from each parent for a particular trait and if one gene is dominant and one is
recessive
Genotype
Description of the combination of a person's genes with respect to either a single of a larger set of traits
, Phenotype
Observable physical characteristics
Mutations
Changes in the structure of genes
-May cause disturbances in body functions
-Occurs when the normal sequence of DNA units is disrupted
Monogenic (Mendelian) Disorders
Caused by a mutation in a single gene
Classified as: autosomal dominant, autosomal recessive, X- or sex-linked, chromosomal, multifactorial
Autosomal Dominant
Only one abnormal gene from a parent is needed
EX. Huntington disease - genetic defect on chromosome 4, deterioration of neurons. Uncontrolled
movements, emotional disturbances, mental detereroation
Retinoblastoma - Rare type of eye cancer that develops in the retina
Autosomal Recessive
Must be 2 copies (both parents) of the abnormal gene
Ex. Cystic fibrosis - Affects cells that produce sweat, mucus, and digestive juices
X- or Sex-linked
Occur when a single abnormal gene on the X chromosome can cause a disease; this abnormal gene
dominates the gene pair. Occurs when both of the genes in a pair are abnormal
EX. Hemophilia - Rare bleeding disorder because by deficiency of specific types of serum proteins caused
clotting factors
Duchenne muscular dystrophy - Manifests as a progressive bilateral wasting of skeletal muscles in males.
Symptoms appear in age 2-5
Chromosomal Disorders
Caused by abnormalities in the number of chromosomes or by changes in chromosomal structure, such as
additions (more), deletions (missing genes), or translocations (genes shifted from one chromosome to
another or to a different location on the same chromosome)
EX. Klinefelter syndrome - Additional X chromosome in males. Body shape is elongated, small tests,
mammary glands are abnormally large. Men don't produce sperm.
Turner 21 - Caused by loss or incomplete X chromosome in either the ovum or sperm. Only affects females.
Shortened stature, swollen hands & feet, coarse & elongated ears. Most females are infertile
Trisomy 21 - Individual has 3 copies of chromosome 21 instead of 2. Sloping forehead, folds of skin over the
inner corner of the eyes. Moderate to severe mental disabilites
