Download Introduction to Genetics Terms

Human Heredity Quiz Study Guide
AB____ a person with a blood type phenotype AB has a genotype of __
Aneuploidy____ when you have an unusual number of chromosomes
AO____ a person with a blood type phenotype A has a genotype of either AA or __
Autosome____ name for the 22 pairs of homologous chromosomes in a human cell (male or female)
BB____ a person with a blood type phenotype B has a genotype of either BO or __
Chromosomes____ human cells contain 46 of these
Circle____ this shape on a pedigree represents the female
Codominance ____ situation in which both alleles are expressed; neither allele of a gene is dominant such as A & B blood alleles
Cystic Fibrosis____ an example of a recessive autosomal disorder (on chromosome 7) that causes a thick mucous to form in the lungs
clogging the lungs & air passageways - most common fatal genetic disease in the United States
Daughters____ men can only pass a sex linked trait to these
Diploid____ refers to the number of chromosomes in a body cell (autosome); containing a double set of chromosomes
Down Syndrome____ a disorder where there is trisomy on the 21 st chromosome pair
Duchenne Muscular Dystrophy____ sex-linked disorder that causes a sudden weakness in muscles
Father____ if a woman is heterozygous for colorblindness or hemophilia, her (father/mother) had to have been colorblind
Female____ genotype is XX
Fifty____ percent of males that will have hemophilia/be colorblind if a normal carrier female has children with a hemophiliac/colorblind
male
Gamete____ refers to sperm or egg (sex cells)
Haploid____ refers to the number of chromosomes in a sperm or an egg; containing a single set of chromosomes
Hemophilia____ an example of a sex linked trait in which the blood does not clot properly
Huntington Disease____ a rare genetic disorder caused by a dominant autosomal gene that causes progressive degeneration of the
nervous system; symptoms don’t appear until 30-50 years of age
Karyotype____ a “line up” of chromosomes used to study for abnormalities
Klinefelter Syndrome____ an example of aneuploidy of the sex chromosomes which results in 47XXY; a sterile male who is taller than
average & may exhibit some
retardation
Malaria____ people who are heterozygous for sickle cell anemia are resistant to this disease
Male____ genotype is XY
Multiple alleles____ a type of gene that is determined by more than two alleles, such as in blood types
Nondisjunction____ process that takes place when a chromosome pair fails to separate correctly during meiosis; this can result in a
wrong number of chromosomes
One-hundred____ percent of males that will be colorblind/have hemophilia if a colorblind/hemophiliac woman has children with a
normal male
OO____ a person with a blood type phenotype O has a genotype of __
Pedigree____ a graphic representation of an individual’s family tree; follows the inheritance of a single gene through several
generations in a family
Phenylketonuria ____ a recessive autosomal disorder in which there is an absence of an enzyme that converts on amino acid which can
then accumulate & cause damage to the central nervous system; newborns are routinely tested for it
Queen Victoria____ hemophilia was studied in her royal family
Red Green Color Blindness____ an example of a sex linked trait that affects the ability to distinguish color
Sex chromosome____ name for the X & Y chromosomes
Sex linked gene____ genes that are located on the sex chromosome, usually the X
Sickle Cell Anemia____ a recessive autosomal blood disorder more common in black Americans in which red blood cells are shaped
like a half moon, clogging blood vessels or causing anemia
Square____ this shape on a pedigree represents the male
TaySachs Disease____ a recessive autosomal disorder more common among Jewish people & the PA Dutch in which a lipid cannot be
broken down & it accumulates in the cells & causes nervous system damage beginning at age two or three, usually ending in death by
age five
Three____ number of blood alleles
Trisomy____ condition that exists when an individual is born with cells that contain three copies of a chromosome
Turner Syndrome____ example of aneuploidy of the sex chromosomes which results in 45XO; a female who lacks ovaries & is short in
stature
Twenty Three____ number of homologous chromosome pairs in a human
X chromosome____ sex chromosome carried by both males & females
XYY____ result of nondisjunction that occurs once in every 1000 males. Male is fertile & taller than average
Y chromosome____ sex chromosome carried only by males
Zero____ percent of males that will be colorblind/have hemophilia if a normal noncarrier female has children with a
colorblind/hemophiliac male