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46 Cards in this Set
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The scientific study of heredity |
Genetics |
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The study of heredity in man |
Human genetics |
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The study of human genetics variation of medical significance |
Medical genetics |
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Medical genetics can be further divided into 5 groups |
*clinical genetics *genetic counseling *molecular genetics *biochemical genetics *cytogenetics |
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A medical speciality which provides a series of diagnostic services for individuals at risk of genetic disorder |
Clinical genetics |
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Process by which the patient and relatives at risk of an inherited disorder are provided with the information towards the disorder or disease |
Genetic counseling |
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Deals with the structure and activity of a genetic material at a molecular level |
Molecular genetics |
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Study of genetics in terms of the biochemical events involved |
Biochemical genetics |
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Study of inheritance in relation to the structure and function of chromosomes |
Cytogenetics |
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1000AD |
*Arab physician Albucasis Hemophilia- as genetic disorder *Robert Hooke Looks @structure under microscope & calls them cell |
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1600s Anton van leeuwenhoek |
-Improved compound microscope -First to see sperm in semen |
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1859 Charles Darwin |
"The origin of species" *evolution |
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1866 Gregor Mendel |
"Pisum sativum" -Austrian monk [Elementen] -unit for gene |
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1869 Friedrich Miescher |
Identified the acidic substance found in cell nuclei of WBC -now called DNA |
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Who created the compound microscope? |
Zaccharias Jansen (dutch) |
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1900 William Bateson |
*Coined the word "genetics" *translated mendel's work to English |
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1910 Thomas Hunt Morgan |
-Confirms the chromosome theory of heredity -using studies of eye color of fruit flies "Drosophila melanogaster" |
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1911 E. B. Wilson |
Identifies X chromosome as the location for gene for color blindness |
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1950 Erwin Chargoff |
Shows 4 nucleotides present in DNA |
A+T ---> A+U C+G |
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1952 Martha Chase & Alfred Hershey |
Uses phages to demonstrate that final proof that DNA is the element of heredity |
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1985 Kary Mullis |
Polymerase chain reaction Replication of DNA in 1hr |
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1995 Venter, Fraser & Hamilton Smith |
Publish the first sequence of the free living bacteria "Haemophilus influenzae" |
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When was the first cloned animal? |
1996 |
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Who is the first cloned animal? From what? |
Dolly the sheep; from an adult somatic cell |
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2001 first pet cloned |
CC the cat (copy-cat/carbon copy) |
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Father of genetics |
Gregor Mendel |
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Chromosome are first observed in tumor cells by? |
Walther Fleming |
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"AB" - co-dominant |
*Exist together *Express together |
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A sequence of nucleotides that represents a functional unit of inheritance |
Gene |
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A region of DNA that codes for a product, either RNA or protein |
Gene |
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Highly ordered structure composed of DNA and proteins that carries the genetic information. In humans, there are 46 ordered in pairs |
Chromosome |
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All chromosomes other than the X and Y chromosomes, which designates the sex chromosomes |
Autosome |
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Sister chromosomes, the members of a pair of chromosomes in which one is inherited from the mother and the other from the father |
Homologous chromosomes/ homologs |
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The position of a gene on a chromosome |
Locus |
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An alternative form of a gene occupying the same locus |
Allele |
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A permanent heritable change in the sequence of genomic DNA |
Mutation |
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The chromosome constitution of an individual |
Karyotype |
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A figure showing the paired chromosomes from a cell arrayed in a standard sequence |
Karyogram |
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The presence of 2 copies of each unique chromosome per cell. In humans, the chromosomes occur in pairs and the diploid (2N) number is 46. |
Diploid |
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One copy of each unique chromosome. In humans, the gametes are ___(N=23) |
Haploid |
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Both alleles at a locus are the same |
Homozygous |
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2 alleles at a locus are different |
Heterozygous |
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Presence of only one chromosome or chromosome segment rather than the usual two; applies to males with a single X chromosome |
Hemizygous |
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Failure of chromosome/ chromatids to separate to opposite poles in cell division. Usually results in one too many/ one too few chromosomes in cell |
Nondisjunction |
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Cell division inthe gonads that produces the gametes. |
Meiosis |
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Somatic cell division, in which the DNA replicates and is evenly distributed to two equal daughter cells |
Mitosis |
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