Study on the vertical transmission of Y chromosome microdeletions from father to son / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To analyze the Y chromosome microdeletions in the family of the infertile male and to study on the vertical transmission of Y chromosome microdeletions from father to son.</p><p><b>METHODS</b>The peripheral blood of infertile patients' family male members was extracted and analyzed with modified multiplex PCR. The infertile family tree was drawn according to the results.</p><p><b>RESULTS</b>Two cases in twelve investigated families had azoospermia factor (AZFc) microdeletion heredity. The others had no heredity.</p><p><b>CONCLUSION</b>AZFc microdeletion of the Y chromosome can be transmitted to the male offspring naturally,and the same deletion can result in different phenotypes in different individuals.</p>

Screening for Y chromosomal microdeletions in AZF region with modified multiplex PCR / 中华男科学杂志

<p><b>OBJECTIVE</b>Screening for Y chromosomal microdeletions in azoospermia factor (AZF) region with modified multiplex PCR.</p><p><b>METHODS</b>160 cases with spermatogenetic failure were recruited in the experimental group, while 90 cases of donors in controls. According to the laboratory guidelines supported by European Academy of Andrology (EAA) and European Molecular Genetics Quality Network (EMQN), Y chromosomal microdeletions in AZFa, b, c regions were screened with multiplex PCR. The primers of sequence targeted sites (STSs) and conditions of PCR were modified.</p><p><b>RESULTS</b>Using modified multiplex PCR, 14 (8.75%) cases with Y chromosomal microdeletions were found in the experimental group, while no case in controls. There were 12 cases in AZFc, 1 case in AZFa + b + c, 1 case in AZFb + c. According to statistics, the difference between two groups was significant (P <0.001). Reaction products could be clearly separated with agarose gel and finished in 1 h.</p><p><b>CONCLUSION</b>Modified multiplex PCR protocols supported by EAA and EMQN proved to be very accurate, sensitive and quick, which could be put into screening practice for Y chromosomal microdeletions in AZF region.</p>