Unit Test 4 Flashcards
Define nondisjunction
Failure of homologous chromosomes in anaphase I, chromatids in anaphase II, or chromatids in mitosis to separate (stay together)
Describe 4 different human anomalies that result from nondisjunction of the sex chromosomes
Down Syndrome: (Genotype) Tisomy 21 – Triple Chromosomes #21 (47 chromosomes)
(Phenotype) individuals are slow learning, mental retardation, longer tongue (furrowed); extra fold of eyelids.
Turners Syndrome: (Genotype) XO, 45 chromosomes; missing a sex chromosome. Have X – female but not a 2nd X or Y; All Females.
(Phenotype) shielded chest; wedded neck; sterile
Klinefelter’s Syndrome: (Genotype) XXY, 47 Chromosomes, extra sex chromosome.
(Phenotype) Tall, sterile, show signs of both sex organs, little breast development.
Jacobs Syndrome: (Genotype) XYY, 47 Chromosomes, extra sex chromosome; All male.
(Phenotype) Aggression, Tall, acne
Define genetics
Study of heredity and the variation of inherited characteristics
What is a trait?
Characteristic or feature of an individual
What is the difference between a genotype and a phenotype?
Phenotype – actual expression or appearance of a trait in an individual
Genotype – actual genetic information
State the Law or Principle of Dominance
When two contrasting (different) traits are crossed, the dominant trait appears in the 1st generation (F1)
What is the difference between a dominant and recessive gene?
Dominant – always expressed when present
Recessive – may be hidden behind a dominant but still present
How are dominant and recessive genes symbolized?
Dominant – symbolized with a capital letter
Recessive – symbolized with lower case
What is the difference between the F1 and F2 generation?
F1 is the first generation
F2 are the offspring produced by F1
State the Law of Segregation
Each parent has two factors (genes) coding for a trait which separates during gamete formation
What is the difference between homozygous and heterozygous?
Homozygous – have the same form of the factor coding for the trait. TT or tt
Heterozygous – have a different form of the factor coding for a trait. Tt
What is the difference between a purebred and a hybrid?
Hybrid – mixed ancestry
Purebred – non-mixed ancestry
Which genes are carried in a cell?
Chromosomes
State the Law of Independent Assortment
Alleles separate independently during gamete formation
What are alleles?
Alleles – alternative forms of genes
Give some examples of alleles of a trait
Blue eyes, green eyes, black skin, white skin
What is the purpose of the Punnett Square?
Mathematical tool used to predict inheritance patterns
Describe the genotype and phenotype of the following human traits. Tay Sachs, Huntingdon’s, Achondroplasia, and Phenylketonuria
Tay Sachs: (Genotype) tt
(Phenotype) Inability to produce hexosaminidase A which causes certain sphingolipids to be stored in the brain, leads to seizures, paralysis, death.
Normal – TT or Tt
Huntingdon’s: (genotype) HH Hh
(Phenotype) over production of quinolinic acid leads to the over stimulation of nerves in the brain; uncoordinated or jerky movements, dementia, death
Normal – hh
Achondroplasia: (Dwarfism) – (genotype) Dd
(Phenotype) bulging forehead; short stature; heterozygous
Normal – dd
DD – die at childbirth due to massive skeletal deformation.
Phenylketonuria: (PKU) – (genotype) pp
(Phenotype) inability to convert phenylalanine to tyrosine; leads to the production of phenyl ketones which accumulate in the blood. Mental retardation
Normal – PP or Pp
Define codominance
Both forms of a trait show up in the phenotype (not blended)
How are codominant traits symbolized?
Capital letter and a superscript letter
Describe the genotype and phenotype of the following codominance inheritance pattern: Sickle Cell Anemia
Genotype – homozygous dominant – SS; Carrier – Ss; normal – ss
Phenotype – red blood cells are sickle shaped and have trouble carrying oxygen causing the person to be anemic (decreased number of circulating red blood cells); fatigued; increased susceptibility to infections; delayed puberty
What are sex-linked traits?
Passed from the mother to the son because of link to the X sex chromosome
Ex: Colorblindness and Duchenne’s muscular dystrophy
How is sex determined in humans?
Through sex chromosomes that carry genes which determine sex
A chromosome from the sperm cell, either X or Y, fuses with the X chromosome in the egg cell, determining whether the baby will be genetically female (XX) or male (XY)
What is the difference between the genetics of a XY and XX individual?
XX – female – homozygous dominant or recessive; heterozygous
XY – male – hemizygous dominant or recessive
Describe the genotype and phenotype of the following sex linked inheritance patterns: Hemophilia, Colorblindness, and Duchenne’s muscular dystrophy
Colorblindness: (genotype) XC XC or XC Y
(Phenotype) inability to discriminate between certain colors
Duchenne’s muscular dystrophy: (genotype) Xd Y or Xd Xd (not very likely)
(Phenotype) deterioration of muscles gradually over a period of time