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2_2_Prelims - Histo
INTRODUCTION TO CYTOGENETICS
| Question | Answer |
|---|---|
| Genetics was coined as a word for the science of heredity - a science founded upon the mendelian method for analyzing products of crosses | 1906 |
| Era of classical Genetics - mendelian genetics fuses with chromosomal theory of inheritance | 1910 |
| Era of molecular biology - made possible through the discovery of DNA | Late 1950 |
| Publication of Mendel's memoir on plant hybridization | 1866 |
| Botanists hugo de vries, carl correns, and erich von tschermak independently rediscovered what is known today as mendels law | 1900 |
| William bateson's a defence of mendels principles of heredity explicitly connected mendels laws with general questions of heredity | 1902 |
| Bateson uses the word genetics with reference to mendel as proposed by his colleague adam sedgwick | 1906 |
| William Johansenn coins the term genes which refer to Mendelian units of heredity | 1909 |
| Mendel's experiment work on pease was crucial in the ___________. he did not intend to offer general laws of heredity only a law on the development of hybrids in plants. | methodological sense |
| Mendel's memoir remained unknown until the ______ when the laws were rediscovered by the three botanists. they also did not intend to propose general laws of heredity either, only of hybridization | 1900 |
| - Mendels first law can also be applied on animals - introduced technical terms, allelomorph, homozygote, heterozygote - the book is the key event | Bateson's 1902 book |
| Chromosomes as the beares of Mendelian Factor was proposed as early as 1902 by? | William Sutton and Theodor Boveri |
| Not widely accepted by Mendelian until 1915 | Chromosomal Theory of Heredity |
| - worked on heredity with fruit flies using both chromosomal theory and mendelian genetics - in 1915, published the book "the mechanism of mendelian heredity" which is considered the most important book in the entire history of genetics | Bateson |
| mendels first law which a zygote receives only one version of a given gene from each parent | mechanistic foundation |
| deals with observable traits, and the inheritance patterns that they follow as they pass from parenting to offspring | Classical Genetics |
| In gene mutation he worked on the effect of X-rays on Drosophilia | Hermann Muller |
| could be induced using x-rays | Gene Mutation |
| Toad eggs fertilized with sperm that was exposed to x-ray resulted in embryos with developmental abnormalities | 1907 Charles Bardeen |
| Muller bred flies whose genomes contained particular genetic markers on X-chromosome, which enable him to identify mutations | 1926 |
| He conducted three experiment from 1926-1927 | Hermann Muller |
| a gene was no more than a unit of function - something transmitted in a discrete manner, and the substitution of which has funtional effect in the phenotype | Mendelian Genetics |
| unit of recombination and unit of mutation | Classical Genetics |
| Discovered the structures of DNA | Francis Crick and James Watson (1953) |
| First model of regulation of gene expression by? | Francois Jacob and Jacques Mond |
| Shows that recombination can occur in many places within a single gene - mutation events could affect a given gene at many sites | Seymour Benzer's experiment on Bacteriophage T4 |
| most impressive discovery in molecular biology since 2000 | Discovery of non-coding RNA |
| Became a key part of biology around 1842 when swiss botanist karl nageli first discovered chromosomes in pollens which he called? | 1. Cytogenetics 2. transitory cytoblasts |
| In 1888 he coined the term chromosomes | Wilhelm Waldeyer |
| is a branch of genetics that studies the structure of DNA withing the cell nucleus - study of chromosomes - testing samples of tissues, blood, or bone marrow | Cytogenetics |
| officially emerged as discipline in 1972. | bioethics |
| study of inherited traits and their variation | Genetics |
| transmission of traits and biological information between generations | Heredity |
| unit if heredity, a distinct sequence if nucleotides forminf part of a chromosome | Genes |
| complete set of genetic instructions characteristic of an organism | Genome |
| deals with analysis of genomes and comparison of genomes of species to reveal how a species is related to another | Genomics |
| either of the two strans of a replicated chromosome | Chromatid |
| non-sex chromosomes numbered to 22 pairs in humans according to size | Autosome |
| sex chromosomes, single pair | Allosome |
| one of the two or more versions of a gene | Allele |
| a mutated allele that has lost the ability of the parent allele, silent gene | amorph |
| specific, fixed position on a chromosome where a particular gene or genetic marker is located | Locus |
| alleles or variants an individual carries in a particular gene or genetic location | genotype |
| individuals observable traits, such as height, eye color, and blood type | phenotype |
| an allele whose characteristic is connected and will be expressed in an individual | dominant |
| allele that will be masked in an individual | recessive |
| possess identical allele | homozygous |
| possess different allele | heterozygous |
| one chromosome has a copy of the gene, and the other chromosome has that gene deleted or absent | hemizygous |
| single copy of autosomal gene is enough to express the trait (Examples: Huntington's disease, Polydactyly (extra fingers/toes, Familial hypercholesterolemia) | Autosomal-Dominant |
| two copies otthe autosomal gene is required to express the trait (Examples: Cystic fibrosis, Sickle cell anemia, Phenylketonuria (PKU), Thalassemia) | Autosomal-Recessive |
| each of the two alleles of an autosomal gene contributes to the phenotype. (Classic Example: ABO Blood Group System) | Autosomal-Codominant |
| traits or disorders caused by a mutation on the X chromosome, where ONE copy of the mutated allele is enough to cause the condition - whether the individual is male or temale. (Examples:Rett syndrome, X-linked hypophosphatemic rickets) | X-linked Dominant inheritance |
| traits or disorders caused by a mutation on the X chromosome, where TWO copies of the mutated allele are needed to affect a female, but ONLY ONE copy is enough to affect a male. (Examples: Hemophilia A & B, Duchenne muscular dystrophy) | X-linked Recessive inheritance |
| a change in single nucelotide of DNA | point mutation |
| * one base is incorrectly added during replication and replaces the pair * Seen in Sickle Cell Anemia | Substitution |
| - One or more extra nucleotides are inserted into the replicating DNA * Seen in one form of beta-thalassemia | Insertion |
| * - One or more nucleotides are skipped or excised often resulting in a frameshift * Seen in cystic fibrosis | Deletion |
| * - usually caused by insertion or deletion causing a change in the reading frame, resulting in a completely different translation from the original. * Chromosomal Mutation | Frameshift Mutation |
| * one region of chromosome is flipped and reinserted * Seen in Opitz-Kevagia syndrome (X chromosome) | Inversion |
| * region is lost resulting in an absence of the gene from that area * Seen in Cri-du-chat syndrome * Deletion in chromosome 5 | Deletion |
| * region is duplicated resulting in an increase in dosage from the genes in that region * Seen in Pallister Killan syndrome * Duplication in chromosome 12 | Duplication |
| * region from one chromosome is aberrantly attached to another chromosome * Seen in Chronic Myelogenous Leukemia * Philadelphia Chromosome t(9;22). | Translocation |
| * single base substitutions that are present in the genome * Caused by point mutations * Most common type of genetic variation * can act as biological markers, helping scientists locate genes that are associated with disease | * Single Nucleotide Polymorphisms (SNPs) |
| purine is substituted for a pyrimidine | Transversion |
| point mutation that causes a deleterious effect on peptide sequence | Missense Mutation |
| substitution of a single base pair leads to appearance of a stop codon | Non-sense Mutation |
| mutations in DNA that do not have an observable effect on the organism's phenotype | Silent Mutation |
Created by:
rhaulline