Study on the relationship between partial deletions in the azzospermia factor C region of Y chromosome and male infertility / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the relationship between the partial deletions in the azzospermia factor(AZFc) region of Y chromosome and male infertility.</p><p><b>METHODS</b>Multiplex PCR technology was performed to screen the partial deletions in the AZFc region in 158 azoospermia, 160 severe oligozoospermia and 135 oligozoospermia patients and 236 men with normal spermatogenesis.For samples with gr/gr, b2/b3 recombinogenic deletions, author applied RFLP method to identify which DAZ gene doublet deletion was involved.</p><p><b>RESULTS</b>The gr/gr and b2/b3 were two types of common deletions detected. There were significant differences in the b2/b3 deletion in patients with oligozoospermia and severe oligozoospermia compared to the controls (both P< 0.05). However, there was no difference for the gr/gr deletion between the patients and controls.</p><p><b>CONCLUSION</b>The results suggested that the b2/b3 deletion might be a risk factor to spermatogenic impairment and might lead to male infertility.</p>

Using multiplex PCR to analyze the breakpoint of a severe Y-chromosome deletion / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To elucidate the relationship between azoospermia factor(AZF) microdeletion of Y chromosome and azoospermia, the exact breakpoint of a severe Y-chromosome deletion was determined according to the physical map of AZF.</p><p><b>METHODS</b>Multiplex polymerase chain reaction was used to amplify fifteen sequence tagged sites (STS), namely sY82, sY84, sY86 in AZFa, sY124, sY127, sY128, sY133, sY134, sY143 in AZFb, sY239, sY242 sY254, sY255 in AZFc, and sY145, sY152 in AZFd; sex-determining region Y(SRY) was taken as an internal control. And then sY82,sY86,sY85,sY84 were further analyzed using the sample of the patient who had Y-chromosome deletion by G band analysis to map the breakpoint at molecular level.</p><p><b>RESULTS</b>All 15 STS and sY85 were amplified in positive control while only sY82, sY86 were amplified in the clinical sample, thus the breakpoint was found to be between sY86 and sY85.</p><p><b>CONCLUSION</b>This study on the patient provided the direct biomolecular evidence of the exact breakpoint of the severe Y-chromosome deletion and established the deletion map of acrocentric chromosome. It also proved that the patient's azoospermia was due to the deletion of AZF.</p>

A genetic study on microdeletion of azoospermia factor region on Y chromosome of azoospermia and oligozoospermia patients / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the genetic causes of azoospermia and severe oligozoospermia.</p><p><b>METHODS</b>Cytogenetic analysis and multiplex polymerase chain reaction(PCR) analysis were done on the 148 patients with azoospermia and serious oligozoospermia.</p><p><b>RESULTS</b>Eleven of the 148(7.4%) cases showed microdeletion of at least one STS. In fifteen STS of AZFa, AZFb,AZFd, AZFc, thirteen STS, eleven STS,two STS and one STS microdeletion were found in each case respectively, including two with 12 STS, five with 5 STS microdeletion.Seven cases had chromosomal morphologic changes(4.7%),four had deletion and one had deletion with translocation of long arm on Y chromosome. One had enlarged region one band two(q12) on long arm of Y chromosome and one had reciprocal translocation of autosomes.</p><p><b>CONCLUSION</b>The findings indicated that AZF microdeletion and chromosomal abnormality should be important causes of male infertility.</p>

A cytogenetic and molecular genetic study on microdeletion of AZF region on Y chromosome / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To study the morphology of Y chromosome and microdeletion of the correlated specific azoospermia factor(AZF) region on Y chromosome in cases of azoospermia and to identify the genetic diagnosis made for male infertility patients.</p><p><b>METHODS</b>Peripheral blood samples were taken from two patients with azoospermia, and then were examined by use of G banding, C banding cytogenetic analysis and multiplex polymerase chain reaction (PCR) microdeletion analysis.</p><p><b>RESULTS</b>The karyotypes of the two cases were 45, X, -Y, -22, +der(Y)t(Y;22)(q11.2;q11.2) and 46, XY, del(Y)(q11.2) respectively. In 12 sequence-tagged sites(STS) of AZFa, AZFb, AZFd, AZFc, only one was detected in the first case and two were detected in the other case.</p><p><b>CONCLUSION</b>The cytogenetic analysis and the detection of AZF microdeletion on Y chromosome are essential to the final genetic diagnosis to be made for male infertility patients.</p>