Genetics Flashcards
(25 cards)
What is a gene?
a unit of inheritance, that corresponds to a characteristic, or as a segment of DNA that carries information, usually for making proteins
Allelles
Variable forms of a single gene. Is responsible for a specific trait, or distinguishable feature of a characteristic. ex. white or purple flowers
Homozygous
Two copies of same allele
Heterozygous
Two different alleles for a gene
genotype
genetic makeup
phenotype
the actual appearance of the traits on the individual
Separation of homologous pairs
In meiosis.
Pedigree Analysis
to track history of how a genetic trait arose in an individual
Punnett square
analysis to predict probability of a genetic trait arising in a future generation
Karyotype
display of one’s chromosomes according to size and centromere position.
Genome make up
more than 21,000 genes
Anauplidy
An abnormal number of chromosomes
nondisjunction
chromosomes fail to separate properly during meiosis I or II
Trisomy 21
extra copy of chromosome 21. Resulting in Down Syndrome. Mild to severe physical and mental defects; high survival rates
Translocation
Chromosomal abnormality in which there is a rearrangement of parts of different, non homologous chromosomes.
Cytogenetic analysis
chromosomes are directly observed and analyzed for aneuploidies and translocations.
amniocentesis
Done to determine if chromosomal abnormality is present in cells of a fetus. small amount of amniotic fluid removed with aid of ultrasonography.
Mitogen
a chemical used once cells are collected to stimulate cells to undergo cell division
Colchine
chemical added to cells in metaphase to freeze the mitotic spindles. used to create chromosome spread. They are stained in a dye that gives them their banding pattern
Trisomy 13/ Platau Syndrome
severe nervous system, muscular, and organ defects; death usually occurs in infancy
Trisomy 18/ Edwards Syndrome
mental and physical defects; death often in infancy
Trisomy 21/ Down Syndrome
mild to severe physical and mental defects; high survival rates
Monosomy X/ Turner Syndrome
all females; short stature; underdeveloped secondary sex characteristics; infertility
XXY/ Klinefelter Syndrome
all male; few detectable symptoms; reduced fertility