HMX Genetics Questions with Correct Answers Graded to Pass!!

Single Nucleotide Variant (SNV) - differences in DNA sequence. 46 chromosomes. >1% of population. Common complex traits bp in nucleus - 6 billion Chromatin - packaged DNA. Composed of DNA helix wound around histone proteins forming nucleosomes. 150 bp of DNA wound around each histone core Amino acid - 20 different molecules used to build proteins. Coded by genes. Organic. Contains a Carboxyl (-COOH) and an Amino (-NH2) group Central dogma - flow of information in cell from DNA to RNA to protein Codon - set of 3 nucleotides DNA - deoxyribonucleic acid. contains deoxyribose sugar (5 carbon), phosphate group, and a nitrogenous base (ATCG). Hydrogen bond connects nucleotides (A=T C=G). Directs production of RNA by transcription. Nitrogen-containing base on 1' carbon. Hydroxyl group on 3'. Phosphate group on 5'. Encodes information Frameshift variant - caused by insertions or deletions of a single gene Genotype - genetic makeup Missense variant - point mutation, single nucleotide change results in codon that codes for different amino acid Nonsense variant - genetic alteration that causes premature termination of a protein nucleic acid - many nucleotides linked in a long chain. DNA or RNA phenotype - physical makeup protein - provide structure and function (phenotype) RNA - provides portability. Directs production of proteins by translation Silent variant - don't have observable effect on organism's phenotype Single Nucleotide Polymorphisms (SNP) - common SNVs, occur in >1% of population, create human genetic diversity Transcription - DNA-->RNA. mediated by RNA polymerase. 2 (RNAPII) complex and produces primary RNA molecule. Primary RNA molecule is spliced and processed to become a mature mRNA Translation - RNA-->Protein. Produces a protein from protein coding region of a mature mRNA. 5' and 3' of mRNA molecule aren't translation-ed and are called untranslated regions (UTRs) Transcription factor - TF. Protein that controls the rate of transcription of genetic information from DNA to mRNA, by binding to a specific DNA sequence Nucleosome - made up of 150 bps of DNA wrapped around protein core composed of 8 histone proteins Base - measurement of DNA length indicating one nucleotide. Unit can be modified by multipliers. Kilobase (Kb) - 1,000 bases Megabase (Mb) - 1,000,000 bases genetic variation - difference in genotype. Variants in regulation regions and UTRs can affect RNA or protein levels. Variant affecting protein structures have to be in the protein coding region -> activity/specificty of enzyme TAA. Variable Expressivity - degree of phenotypic expression differs among individuals with same genotype Alleles - different forms of genes Autosomal - have 46 chromosomes (44 autosomes and 2 sex chromosomes). Diploid Carrier - individuals who are heterozygous in recessive inheritance Centromeres - highly condensed region of chromosome where sister chromatids are connected Diploid - 2n. 2 copies of a chromosome Dominant - requires only 1 copy of a disease allele to cause a disease Expressivity - degree of phenotypic expression of a train in individuals gametes - sex cells. egg cells in females. sperm cells in males. haploid. 23 chromosomes (22 autosomes and 1 sex chromosomes) haploid - n. one copy of a chromosome heterozygous - organisms that have 2 different alleles for a gene. Tt homologous chromosomes - one set comes from male parent and one set comes from female parent homozygous - organisms that have 2 identical alleles for a gene. tt independent assortment - all pairs of genes segregate independently from each other, unless they are close together on the same chromosome Meiosis - reductional division. diploid cells reduce their genetic material by half to create haploid reproductive cells, or gametes