brief history of genetics

Question 1

molecular genetics

Answer 1

1) chemical bases of heredity
- genomics - study of genes
- proteomics - study of proteins

Question 1

cytogenetics

Answer 1

1) physical basis of herefity

Question 2

behavior genetics

Answer 2

1) how a certain organism behave

Question 3

population genetics

Answer 3

1) transmission of trait in a large group of individual through time

Question 4

classical genetics

Answer 4

how traits are transmitted

Question 5

gregor mendel

Answer 5

1) 150 years ago, genotype results in phenotype

Question 6

human genome project

Answer 6

1) new tool for diagnostics and prognosis

Question 7

why genetics?

Answer 7

1) to understand etiology
- for diagnosis, treatment plan, prevention, understand diseases
- implement personalized medicine

Question 8

development of the head and face

Answer 8

1) coordinated by TFs and signaling molecules
- 4th week of gestation
- migration of neural crest cells establishing facial primordia
- maxillary prominences enlarge and grow toward each other and nasal processes

Question 9

craniofacial and upper airway structures

Answer 9

1) mesenchymal and epithelial tissues are synchronized
- interruption of TFs and GFs leads to congenital anomalies
2) week 4
-64 upregulated genes
3) 5 weeks
- 26 upregulated genes in frontonasal process
4) 6th week
- lateral nasal prominence 45 genes
- medial nasal prominence 36 genes

Question 10

most important genes in craniofacial morphogenesis

Answer 10

1) polarizing signals
2) growth factors
3) cell adhesion molecules
4) ECM

Question 11

asking about disorders

Answer 11

1) what does this boy have
2) was he born like this
- yes, congenital anomaly
3) does he look like somebody in the family
- heredity
4) how this happened
- etiology
5) when this happened
- prenatal development

Question 12

history of genetics

Answer 12

1) pre-mendelian era
- 19th century
- 1875 Darwin identified hereditary anodontia
2) classical era
- 1900-1930
3) DNA era
-1930-1970
- heredity vs environment
4) genomic era
- 1970-2010
- heritability era
5) postgenomic era
-2010-
- postgenomic and epigenomic period
- precision medicine period

Question 13

aristotle

Answer 13

1) homunculus
- carries a tiny version of adult, each part of which can be expanded into the corresponding part of adult
2) preformation
- pre-formed bodies, sperm cells

Question 14

gregor mendel

Answer 14

1) 1822-1884
2) law of uniformity
- two homozygotes with different alleles are crossed and produce same offspring in F1
2) law of segregation
- each characteristic is represented by two genes, only one which is transmitted at a time
3) law of independent assortment
- members of different gene pairs segregate to offspring independently of one another

Question 15

charles darwin

Answer 15

1) 1809-1882
2) all species have descended from common ancestry
3) branching pattern of evolution from natural selection
4) theory of evolution in “the origin of species”

Question 16

friedrich mischer

Answer 16

1) 1844-1895
2) discovered new type of weak acid abundant in the nuclei of the WBC that was DNA

Question 17

1900 three scientists

Answer 17

1) 34 years after mendel, rediscovered mendel laws
2) erich von tschermak, hugo de vries, carl correns

Question 18

walter sutton

Answer 18

1) 1877-1916
2) behavior of chromosomes
- applies mendenlian laws to cellular level
- significant contribution to moden biology

Question 19

thomas hunt morgan

Answer 19

1) 1866-1945
2) fruit flied to confirm that genes were located on the chromosomes
3) sturtevant was the first scientist who created a genetic map of a fruit fly

Question 20

william bateson

Answer 20

1)1861-1926
2) first one to use the term genetics, allele, zygote, heterozygote, homozygote

Question 21

archibald garrod

Answer 21

1) 1857-1936
2) studied families with alcaptonuria
- autosomal recessive
- extrapolated mendelian laws

Question 22

1944 3 scientists

Answer 22

1) avery, macleod, and mccarty
2) showed DNA can transform properties of cells
- chemical nature of genes
3) streptococcus pneumoniae

Question 23

rosalind elsie franklin

Answer 23

1) 1920-1958
2) xray diffraction photo of DNA
3) crucial clues to the structure of DNA 4)

Question 24

watson and crick

Answer 24

1) 1953 2) discovered the double helical structure of DNA 3) received nobel prize

Question 25

classification of genetic disease

Answer 25

1) single gene defects / mendelian disorders 2) multifactorial or polygenetic 3) cytogenetic 4) atypical pattern of inheritance

Question 26

mendelian inheritance

Answer 26

1) single gene disorder 2) single mutation in structure of DNA - cause single basic defect with pathological consequences 3) autosomal dominant - 50% offspring 4) autosomal recessive - 25% offspring 5) x-linked recessive - 50% sons - 50% daughters carriers

Question 27

victor mckusick and robert gorlin

Answer 27

1) victor mckusick - mckusick catalog - online mendelian inheritance in man - 1921-2008 2) robert gorlin - syndromes of head and neck - 1923-2006

Question 28

by 1966

Answer 28

1) 1500 single gene disorders identified by mckusick

Question 29

by 1998

Answer 29

1) 12the edition of the catalog, 8500 entried

Question 30

by august 2016

Answer 30

1) 23,600 entries

Question 31

DNA sequencing

Answer 31

1) 1918-2013 2) frederick sanger

Question 32

jumping genes

Answer 32

1) 1902-1992 2) barbara mcclintock

Question 33

triplet genetic code

Answer 33

1) 1927-2010 2) marshall warren nirenberg

Question 34

how face develops in treacher collins

Answer 34

1) lower and midface stays behind in growth 2) upper face will overgrow 3) must start early in the treatment of the ramus of the mandible - to deal with midface hypoplasia 4) eyes should be corrected as well - closure for function 5) things need to be done at a certain time

Question 35

how will this help me with care an treatment of my patient

Answer 35

1) understand gene functions - know which areas of the face will stay behind the others in growth 2) early intervention - with distraction osteogenesis will prevent progression of dysmorphology due to slow growth of affected part and normal growth of other areas