Review of Genetic Concepts Flashcards

3403477499	Genetics	The study of individual genes and their effect on rare single-gene disorders	0
3403479875	Genomics	The study of all the genes interacting together and the influence of the environment, psychosocial factors, and cultural factors	1
3403485618	DNA	A double helix Each strand is composed of a long series of bases: Adenine, Cytosine, Guanine, and Thymine (A,C,G,T) The bases code for genes, with specific sequences of bases coding for different genes Each DNA molecule contains many genes Humans have >20,000 genes	2
3403496716	How are genes "read"?	Via transcription and translation The end result is formation of a protein A specific gene "codes" for a specific protein	3
3403500523	Transcription	The first step in the protein-making process When a protein is needed, specific factors attach to a site on the A strand where the gene that codes for the protein begins. The DNA double helix is unwound and the gene on one strand is "read". The bases of the genes are copied to RNA	4
3403507375	How is RNA different than DNA?	Has the same nucleotide bases except the DNA base Thymine is replaced with Uracil Replace T for U ACGU	5
3403515698	Translation	The second step in the protein-making process The RNA copy moves from the nucleus to the cytoplasm of the cell A ribosome "reads" the sequence of RNA bases. Each sequence of three bases is called a codon, codes for one particular amino acid. These amino acids are the building blocks of protein and are assembled together, one at a time, to make the protein coded for by the original gene sequence	6
3403528792	Chromosomes	Tightly coiled structures of DNA Each chromosome is made up of one DNA molecule	7
3403534306	A collection of a person's chromosomes is referred to as a	karyotype	8
3403540313	What does a karyotype refer to?	The characteristics (number, type, shape, etc.) of the chromosomes of an individual and is usually displayed pictorially	9
3403543116	What does a karyotype look like?	Human type normally consists of 23 pairs of chromosomes, 46 total For each pair of chromosomes, one copy is received from each parent Of the 23 pairs, 23 are virtually identical, and are called autosomes The other 2 chromosomes are the X and Y chromosomes and are called the sex chromosomes	10
3403556188	Females have	2 X chromosomes	11
3403557773	Males have	An X chromosome inherited from mom and a Y chromosome inherited from dad	12
3403562372	What is a disorder that can occur on the LDLR gene on chromosome 19?	Familial hypercholesterolemia	13
3403565609	Allele	A form of a gene at a particular locus (location) on a chromosome	14
3403570271	Homozygous	Same locus Same alleles Refers to having the same alleles on a given pair of chromosomes (has the same form of a gene at the same chromosomal locus)	15
3403574682	Heterozygous	Same locus Different alleles Refers to having alleles on a given pair of chromosomes (has a different form of the gene at the same chromosomal locus)	16
3403582583	Hemizygous	Refers to having 2 different paired chromosomes, each with totally different genes, specifically this refers to the paired X and Y chromosomes in males	17
3403589748	Gene Mutation	An allele (gene) that is different from what is normally found at a particular locus (location)	18
3403597312	Wild Type or Usual form of the gene	Refers to the allele that is most commonly found at a particular chromosomal locus	19
3403598866	Mutation	Refers to an allele that is different from the usual form of the gene (differs from what is most commonly found at a particular chromosomal locus)	20
3403604450	Mutations may have	No effect on health A protective health effect A harmful effect that results in or increases risk for the development of a disorder	21
3403611174	Genotype	The genetic makeup	22
3403612637	Phenotype	Physical characteristics caused by genetic makeup	23