Module 8 - Part 2 Flashcards
NDJ of the x-chromosome in XX individual
- resemble what you might see for an autosome
- Two copies of the x-chromosome
NDJ of the x-chromosome in XX individual
NDJ in meiosis I
- (n+1) or (n-1)
- gametes w either two copies of x or no x chromo
NDJ of the x-chromosome in XX individual
NDJ in meiosis II
- n, (n+1) & (n-1)
- gametes w normal haploid gametes each w 1,2 or no x chromosomes
NDJ of the X & Y chromosome XY individuals
- don’t resemble what you might see for an autosome
(ie. 1X and 1Y)
NDJ of the X & Y chromosome XY individuals
NDJ in meiosis I
- (n+1) and (n-1)
- have either gametes w XY chromo or NO sex chromo
NDJ of the X & Y chromosome XY individuals
NDJ in meiosis II
- gametes that’s n, n+1, & n-1
- gametes w XX, no chromo or a set of normal haploid gametes (each w 1 Y)
- gamete w YY, no chromo or a set of normal haploid gametes (each w 1 X)
Intersex individuals
Show physical characteristics typically assigned to the opposite sexes, or have gonads that’re ambiguous to one or both sexes
Sex chromosome mutation
loss of androgen sensitivity due to x-linked recessive mutation of the androgen receptor
Sex chromsome aneuploidy
atypical # of sex chromosome
- XXY: kleinfelter’s syndrome
- XYY: jacob’s syndrome
- XO: turner’s syndrome
Turner Syndrome - XO
aka. 45, x karyotype
- missing one x chromo (monosomy)
- affects 1 in 2000-5000 females
- affected individuals are infertile
- isn’t inherited
Klinefelter’s Syndrome - XXY
aka. 47, XXY karyotype
- trisomy
- additional x chromo silenced (have multiple copies of PAR gene)
- most common type in humans (1 in 500-1000 males)
- affected show reduced fertility
- isn’t inherited
- severity of symptoms depends on age XXY ppl are examined
Jacob’s Syndrome - XYY
aka. 47, XYY karyotype
- have an extra Y chromo (trisomy)
- most common after KS (1 in 1000 males)
- affected show reduced fertility
- isn’t inherited
- symptoms are variable
In somatic cells
XO:
XXY:
XO: genes in par regions is half of normal level
XXY: genes in par regions are over expressed
- may explain morphological abnormalities
In germ cells
XO:
XXY:
XO: half normal dosage for all x-linked genes
XXY: all x-linked genes are over expressed (2-3x)
- explains sterility
The theory of the “supermale”
- 1960s/70s studies revealed there was a higher freq of aneuploid men in mental institutions and prisons
- thought that ppl w an extra Y chromo were at increased risk of criminal behaviour
- 1988 study “found” that men w extra x chromo were more likely to be arsonists