Chromosomal Abberations Flashcards
sex-linked traits
traits linked to genes on x and y chromosomes
sex-influenced traits
expressed in both sexes, but controlled by differing hormone levels in males v. females
sex-limited traits
traits expressed in only one sex because of hormonal influence
Lyon effect
x cs inactivation
-affects all X chromosomes in excess of one cs per cell during very early embryonic development
barr body
-inactive x chromosome in the female cell
XIST protein
- gene on x cs produces XIST RNA
- coats excess X cs which leads to inactivation
- some genes on inactive x cs are still active and are able to transcribe
- once they are acted on, the cs’ genes are passed to the next generation of cells within the organism in the same inactive or activated state
X- chromosome inactivation
- affects all X cs in excess of one cs per cell during very early embryonic development
- forms barr bodies depending on the number of x chromosomes
mosaic
-some heterozygous states may cause non-uniform phenotypes
-ex calico cat, weird sweat glands
-
nondisjunction
- changes in cs number
- error in which cs failed to properly separate in mitosis or meiosis I or II
- mitosis can result in organisms mosaic phenotype
- error in gamete(egg or sperm) which causes entire orgamism to be errored and which can be related to teh mothers age or environmental influence
monosomy
lack of one chromosome which is lethal so spontaneosuly abortion
trisomy
-addition of a cs
-most are lethal which results in spontaneous abortion or they die shortly after birth
1. Trisomy 13/18 are multi system errors which make extra proteins
they could birth but they die
2. Trisomy 21 is downs syndrome which is viability
sex chromosome errors
- result in error of entire organism
- generally viable
Klinefelter syndrome
- sex cs error
- 47 XXY
- male breast tissue develops
- tested not fully developed
- lower IQ
Turner syndrome
- sex cs error
- 45, XO
- female, shorter, undiffernetiated gonads, ovarian streaks do not turn into the ovary
- stay prepubescent bc ovary does not make progesterin or estrogen
Jacob Syndrome
- sex cs errror
- 47 XYY
- tall, lower IQ, not really noticable