Sl. Liow et al., Prognostic value of Y deletion analysis - How reliable is the outcome of Ydeletion analysis in providing a sound prognosis?, HUM REPR, 16(1), 2001, pp. 9-12
Y chromosomal microdeletions at the azoospermia factor (AZF) locus have bee
n implicated as one of the major causes of idiopathic male infertility. The
availability of intracytoplasmic sperm injection (ICSI) in treating a vari
ety of male infertility has raised the risk of the transmission of Y microd
eletions from father to son, In many IVF centres, Y microdeletion analysis
has been used as a diagnostic tool for genetic counselling of infertile cou
ples, Presently, the only prognosis that can be derived from Y microdeletio
n analysis is that the affected male offspring would benefit from proper cl
inical management of their infertility. Prognoses based on the pattern of Y
microdeletions in relation to phenotype are rather subjective and inconclu
sive because of insufficient data to derive a definitive correlation whose
significance can be determined by statistical analysis, Standardization of
the number and choice of sequence-tagged sites (STS), whose deletions resul
t in defective spermatogenesis, for the polymerase chain reaction (PCR) ana
lysis of Y microdeletions would enhance its reliability in the interpretati
on of the results which is crucial for therapeutic decision-making. Further
more, in-depth understanding of the gene functions in male infertility, esp
ecially at the AZF locus, would contribute greatly to the quality of the pr
ognostic value of Y microdeletion analysis.