Lecture 6 Flashcards
cytogenetics
they study of chromosomes with relation to cell behaviour
Chromatin
uncondensed DNA
dna and proteins (histones)
Euchromatin
active
loosely arranged
Heterochromatin
inactive
densely arranged
before cell division
chromosomes replicate, 2 identical copies that remain attached at the centromere
Mitosis purpose
growth and repair
Meiosis purpose
gamete formation
interphase
chromosomes duplicate
centrosomes with centriole pairs
prophase I
homologous chromosomes pair and exchange segments
spindle fibres start to form
metaphase 1
tetrads line up
microtubules connect to chromosomes
anaphase 1
pairs of homologous chromosomes split up
sister chromatids remain attached
homologous chromosomes separate
Telophase 1 and cytokinesis
two haploid cells form: chromosomes are still double
cleavage furrow forms (dip between two joined cells)
Meiosis 2
during another round of cell division the sister chromatids finally separate and four haploid daughter cells and formed
2 mechanisms of producing new combinations of gametes
independent assortment
crossing over
indepedant assortment
there are two equally probrable but different arrangements of chromomses at metaphase 1 so after meiosis 11 four gene combinations are created
crossing over
exchange of maternal and paternal DNA during prophase 1
Tetrad
group of four chromosomes
Aneuploidy
loss or gain of a chromosome
usually not survivable
gain of chromosome 21 is survivable
Nondisjunction
the failure of homologous chromosomes or sister chromatids to separate properly during cell division
- this leads to there being not enough or too many chromosomes in each gamete
Karyotyping
the collection of chromosomes in a cell is the karyotype
arrange chromosomes by size, morphology and banding to make a karyogram
Karyogram
a visualisation tool used to easily show the karyotype
Down syndrome
Where someone has 3 copies of chromosome 21
this is the most common form on aneuploidy in live birth
physical growth delays, intellectual disabilities and poor immune function
sex chromosome aneuploidies
better tolerated than autosomal aneuploidies
XY karyotype aneuploidies
loss of Y (XO)- turners syndrome
Gain of Y XXY
loss of x YO- not survivable
Gain of X- XXY- kleinfelters syndrome
Polyploidy
extra set of all chromosomes
very common in plants but rare in animals