X-kromosom inaktiveringsmekanismens betydning for udviklingen af sygdomme hos kvinder

Sidsel Salling Thorborg, Chalotte Heinsvig Poulsen & Grith Mai Tønnesen

Studenteropgave: Semesterprojekt

Abstrakt

X-chromosome inactivation occurs during embryogenesis and is a phenomenon, where either the paternal or the maternal X-chromosome is inactivated in all of the cells in the female body. This is to compensate for the uneven balance of genetic inheritance between the two sexes. The inactivation process is usually random, thus half of the cells inactivate the maternal X-chromosome and the other half inactivates the paternal X-chromosome. Sometimes the inactivation-pattern is skewed, meaning that one of the X-chromosomes is predominantly expressed. This can occur by coincidence, but usually it is due to a mutation on the other X-chromosome. The inactivation-pattern can function as a protective mechanism, where the cells can “choose” to inactivate the chromosome carrying a mutation. This can make women carriers of diseases, without expressing any symptoms. Unfortunately it appears that the inactivation process sometimes inactivates the healthy X-chromosome, leaving the mutated chromosome, the functional one. This phenomenon’s origin still remains unexplained. It is this subject we find very interesting and therefore our project deals with this exact issue about how the inactivation-pattern sometimes works against females so that they express diseases. There are still several problems to be resolved regarding the X-inactivation mechanism, and it can be difficult for students and others to obtain knowledge concerning these issues. Therefore this project aims to communicate the issues regarding X-inactivation on an accessible level, so that more people can acquaint with the phenomenon.

UddannelserMedicinalbiologi, (Bachelor/kandidatuddannelse) Bachelor el. kandidat
SprogDansk
Udgivelsesdato23 jun. 2008

Emneord

  • X-kromosominaktivering
  • Rett syndromet
  • Duchenne muscular dystrophy
  • skæv X-kromosominaktivering
  • X-bundet sygdom
  • mental retardering
  • Hæmofili
  • autoimmune sygdomme