Jam. Kremer et al., Does intracytoplasmic sperm injection lead to a rise in the frequency of microdeletions in the AZFc region of the Y chromosome in future generations?, HUM REPR, 13(10), 1998, pp. 2808-2811
Microdeletions in the AZFc region of the Y chromosome are found in oligo- a
nd azoospermic men, These mutations were genetically lethal before the intr
acytoplasmic sperm injection (ICSI) era but they can nowadays be transmitte
d to next generations via ICSI, We have tried to ans,per the question,'Does
ICSI lead to a significant rise in the frequency of these microdeletions i
n future generations?', by developing a mathematical model for Y-linked mut
ations with two variables (fitness and mutation frequency), To illustrate t
his model we have made estimates according to three imaginary scenarios, Us
ing the assumptions described, the model predicted that the frequency of mi
crodeletions in the AZFc region would increase in each generation until a p
lateau was reached, The higher the fitness, the higher the plateau and the
later the plateau would be reached. Taking realistic estimates fur fitness
(0.5) and spontaneous mutation frequency (0.0001), the maximum increase in
men with microdeletions mould be twofold, This maximum would be already rea
ched after five generations, However, if the fitness of these men were impr
oved and approached 1.0, the mechanism of selection would disappear and fin
ally all men mould have the deletion in the AZFc region, Because of the ass
umptions in these scenarios, these estimates have limitations, The model pr
esented shows that the rise in the frequency of men with microdeletions in
the AZFc region in future generations would be limited as long as the fitne
ss of these men remained limited.