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Anatomy and Physiology
Genetics and Heredity
32
Anatomy
Undergraduate 1
12/06/2017

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Cards

Term

Who carries the X and Y chromosomes and the relative size of the chromosomes (which is bigger)

Definition
-X chromosomes are female chromosomes and are larger than Y chromosome
-Y chromosomes are mail chromosomes-males carry both X and Y chromosomes
Term

What type of genes does the X chromosome contain?

Definition
Includes genes that determine female sexual characteristics as well as non-sexual characteristics
Term

What causes cystic fibrosis and what does it result in the impairment of?

Definition
-results because of recessive genes in chromosome pair 7
-impairment of chloride ion transport across cell membrane's causes exocrine cells to secrete thick mucus and concentrated sweat; thickened mucus may obstruct respiratory and gastrointestinal tracts, leading to death
Term

What does Down syndrome result from?

Definition
-from trisomy 21
-triplet of chromosome 21 rather than a pair
Term

The human genome contains how many genes?

Definition
20,000 to 25,000 genes in large amounts of noncoding DNA (junk)
Term

How many chromosomes does a zygote contain?

Definition
When a sperm and then ovum unite at conception, they form a zygote with 46 chromosomes
Term

Understand genetic predisposition and why it occurs

Definition
Disease occurring because of combined effects of inheritance and environmental factors
Term

Phenotype

Definition
Manner in which genotype is expressed; how an individual looks because of genotype
Term

Tumor suppressor cells

Definition
Genes regulate cell division so it proceeds normally; when nonfunctional because of a genetic mutation, it allows cells to divide abnormally
Term

Histone

Definition
Strand form of DNA is chromatin; made up of subunits called nucleosomes , which are like small spools of DNA wound around proteins called histones
Term

Crossing over

Definition
During one phase of meiosis, pairs of matching chromosomes line up along the equator and exchange genes with one another
Term

Klinefelter

Definition
Occurs in males with a Y chromosome and at least 2 X chromosomes;
-characteristics include long legs and large breasts, low intelligence, small testes, sterility, and chronic pulmonary disease
Term

Pedigree

Definition
Chart that illustrates genetic relations in a family over several generations;
-helpful in determining the possibility of producing offspring with certain genetic disorders
Term

Karyotype

Definition
Ordered arrangement of photographs of chromosomes from a single cell;
-used in genetic counseling to identify chromosomal disorders
Term

Mutagens and what could they be

Definition
Agents that cause most genetic mutations;
-genetic mutagens include radiation chemicals and viruses
Term

Deletion

Definition
Missing information in the genetic code
Term

Genetics

Definition
Scientific study of inheritance; developed to explain how normal biological characteristics are inherited
Term

Homzygous

Definition
Genotype with two identical forms of a gene (AA)
Term

Heterozygous

Definition
Genotype with two different forms of a gene (Aa)
Term

Carrier

Definition
Person who possesses the gene for a recessive trait but does not exhibit the traits
Term

Polygenic trait

Definition
When more than one gene is involved in producing a particular trait; a "combined trait" because it results from a combination of jeans
Term

Sickle cell anemia

Definition
A severe possibly fatal hereditary disease in which RBCs become sickle shaped because of an abnormal type of hemoglobin ( two sickle cell genes)
Term

PKU

Definition
-Phenylketonuria
-results from recessive genes that failed to produce phenylalanine hydroxylase
-phenylalanine cannot be converted into tyrosine and thus accumulates
-high concentrations destroyed brain tissue
Term

Gene therapy

Definition
Involves changing the genetic code of cells to replace normal proteins that are absent in genetic disorders
Term

Osteogenesis imperfect

Definition
Dominant genetic disorder of connective tissues resulting in imperfect bone formation
Term

Tay-Sachs disease

Definition
Recessive condition involving failure to make an essential lipid processing enzyme;
-carrying one TSD gene may be protective against tuberculosis
Term

Genome

Definition
-Entire set of human chromosomes
-46 and nucleus of each cell (23 from mom, 23 from Dad)
-one mitochondrial chromosome (Energy chromosome powerhouse)
Term
Dominant gene
Definition
Effects are seen
-capable of masking the effects of a recessive gene for the same trait;
-representative by uppercase letter
Term
Recessive gene
Definition
- effects are masked by the effects of a dominant gene for the same trait
-represented by a lowercase letter
Term
Genetic variation
Definition
Independent assortment of chromosomes ensures that each offspring from a single set of parents is genetically unique
Term
Oncogenes
Definition
Abnormal genes is believed to cause some forms of cancer
Term
Gene replacement
Definition
Abnormal, disease causing proteins are replaced by "therapeutic" genes;
-goal is to genetically alter existing body cells to eliminate the cause of a genetic disease
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