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Samenvatting Genetica - Monogene overerving
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Genetica - Monogene overerving
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GENETICA:MONOGENE OVERERVING
HET MENSELIJK GENOOM
Elke lichaamscel bevat 46 DNA-moleculen/chromosomen = het genoom
46 chromosomen geschikt als 23 chromosomenparen = diploïde
of 2 sets 23 unieke/ongerepliceerde chromosomen
23 chromosomen overgeërfd vd vader = vaderlijke set
23 chromosomen overgeërfd vd moeder = moederlijke set
zaad- & eicellen = gameten = monoploïd
bevatten slechts 1 set 23 unieke chromosomen
Chromosoomparen worden genummerd vn 1 tt 23 & is vn groot nr klein
paren 1 tt 22 = 22 paar autosomen
= gepaarde chromosomen zijn qua vorm & functie identiek
= bevatten zelfde genen
paar 23 = 1 paar heterosomen = geslachtschromosomen
vrouw = XX = 2 volwaardige X-chromosomen
man = XY = 1 X-chromosoom & 1 onvolwaardige Y-chromosoom
Karyogram = karyotype = chromosomenkaart
afbeelding vd 23 paar chromosomen id celkern
grotere chromosoom-afwijkingen bestuderen
CHROMOSOMALE AFWIJKING: TRISOMIE 21
= syndroom vn Down
= mongolisme
= triplet vn chromosoom 21
47 XX of 47 XY
Oorzaak = non-disjunctie
nt goed scheiden vd chromosoomparen tijdens celdeling
, HOMOLOGE CHROMOSOMEN
Gepaarde chromosomen = 1 tem 22 autosomen + XX = identiek qua vorm & functie
homologe chromosomen
bevatten dezelfde genen
coderen vr dezelfde set eiwitten; uitzondering vn X & Y
Sommige genen bij mens zijn allelische varianten
allelen
genetisch polymorfisme
Lichaamscel heeft vr ieder gen 2 allelen
vaderlijk & moederlijk identiek = homozygoot
vaderlijk & moederlijk verschillen = heterozygoot
bij man X & Y chromosoom = hemizygoot
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