Genetics Genomics Flashcards
What is the study of single genes, heredity, and variation of organisms called?
Genetics
What is the study of all the genes in our DNA and their functions called?
Genomics
In what year was the human genome sequenced?
2003
What does epigenetics help explain?
How different types of cells are formed from cells that contain the same genome
How does the epigenome of a developing baby get influenced?
By the expectant parent’s lifestyle while still in the womb
What is the genetic material found in all cells?
Deoxyribonucleic acid (DNA)
How many chromosomes do humans have?
46
What are specific sequences of DNA called?
Genes
What are the four bases of DNA?
- Adenine (A) * Thymine (T) * Guanine (G) * Cytosine (C)
What is the process of transferring genetic information from DNA to RNA called?
Transcription
What is the process of reading mRNA to synthesize proteins called?
Translation
What are chromosomes made of?
DNA and proteins that form a structure called chromatin
What type of cells contain 2 copies of each chromosome?
Diploid cells
What are gametes, such as sperm and ovum, classified as?
Haploid
What is the final stage of the cell cycle where the cell divides called?
Cytokinesis
What are the four main phases of mitosis?
- Prophase * Metaphase * Anaphase * Telophase
What is the process called that produces gametes containing one chromosome from each pair?
Meiosis
What occurs during prophase 1 of meiosis that generates variation?
Recombination
What do mutations refer to?
Changes in the base sequence of DNA due to mistakes during copying
What are the two types of alleles inherited in genetics?
- Heterozygous * Homozygous
What is the observable characteristics determined by an individual’s genotype called?
Phenotype
What are single gene disorders caused by?
A mutation of a single gene
What is the term for having an abnormal number of chromosomes?
Aneuploidy
What is Down’s syndrome also known as?
Trisomy 21
What does preimplantation genetic diagnosis (PGD) allow?
Diagnosis of genetic and chromosomal disorders in an embryo before transfer
What is the process by which maternal and paternal DNA are exchanged during meiosis called?
Recombination
Fill in the blank: Genes are inherited in pairs, but there are different types of each gene called _______.
alleles
True or False: Each gamete produced during meiosis is genetically identical.
False
What is the initial assessment performed on a newborn called?
Newborn and Infant Physical Examination (NIPE)
What is the screening program that tests for metabolic and genetic disorders in newborns?
Newborn Blood Spot (NBS) screening program
