Poor intracytoplasmic sperm injection outcome in infertile males with azoospermia factor c microdeletions

2021 ◽  
Author(s):  
Li Zhang ◽  
Jia-ming Mao ◽  
Ming Li ◽  
Ying Lian ◽  
Sheng-li Lin ◽  
...  
Keyword(s):  
Intracytoplasmic Sperm Injection ◽  
Azoospermia Factor ◽  
Factor C

scholarly journals Y-chromosome haplogroups and susceptibility to azoospermia factor c microdeletion in an Italian population

2006 ◽  
Vol 44 (3) ◽  
pp. 205-208 ◽  
Author(s):  
B. Arredi ◽  
A. Ferlin ◽  
E. Speltra ◽  
C. Bedin ◽  
D. Zuccarello ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Italian Population ◽  
Azoospermia Factor ◽  
Factor C

Analysis of partial azoospermia factor c deletion andDAZcopy number in azoospermia and severe oligozoospermia

Andrologia ◽  
2016 ◽  
Vol 48 (9) ◽  
pp. 978-982 ◽  
Author(s):  
L. Alimardanian ◽  
K. Saliminejad ◽  
S. Razi ◽  
A. Ahani
Keyword(s):  
Severe Oligozoospermia ◽  
Azoospermia Factor ◽  
Factor C

scholarly journals A common 1.6 mb Y-chromosomal inversion predisposes to subsequent deletions and severe spermatogenic failure in humans

eLife ◽  
2021 ◽  
Vol 10 ◽  
Author(s):  
Pille Hallast ◽  
Laura Kibena ◽  
Margus Punab ◽  
Elena Arciero ◽  
Siiri Rootsi ◽  
...  
Keyword(s):  
Male Infertility ◽  
Genetic Factors ◽  
Gene Dosage ◽  
Severe Oligozoospermia ◽  
Azoospermia Factor ◽  
Reproductive Decision Making ◽  
High Penetrance ◽  
Carrier Identification ◽  
Factor C ◽  
Spermatogenic Failure

Male infertility is a prevalent condition, affecting 5–10% of men. So far, few genetic factors have been described as contributors to spermatogenic failure. Here, we report the first re-sequencing study of the Y-chromosomal Azoospermia Factor c (AZFc) region, combined with gene dosage analysis of the multicopy DAZ, BPY2, and CDYgenes and Y-haplogroup determination. In analysing 2324 Estonian men, we uncovered a novel structural variant as a high-penetrance risk factor for male infertility. The Y lineage R1a1-M458, reported at >20% frequency in several European populations, carries a fixed ~1.6 Mb r2/r3 inversion, destabilizing the AZFc region and predisposing to large recurrent microdeletions. Such complex rearrangements were significantly enriched among severe oligozoospermia cases. The carrier vs non-carrier risk for spermatogenic failure was increased 8.6-fold (p=6.0×10−4). This finding contributes to improved molecular diagnostics and clinical management of infertility. Carrier identification at young age will facilitate timely counselling and reproductive decision-making.

scholarly journals Analysis of DAZ gene expression in a partial AZFc deletion of the human Y chromosome

2014 ◽  
Vol 26 (2) ◽  
pp. 307 ◽  
Author(s):  
Byunghyuk Kim ◽  
Wonkyung Lee ◽  
Kunsoo Rhee ◽  
Soo Woong Kim ◽  
Jae-Seung Paick
Keyword(s):  
Y Chromosome ◽  
Pcr Assay ◽  
Azfc Region ◽  
Azoospermia Factor ◽  
Azfc Deletion ◽  
Deleted In Azoospermia ◽  
Polymerase Chain ◽  
Factor C ◽  
Human Y Chromosome ◽  
Daz Gene

The azoospermia factor c (AZFc) region of the Y chromosome consists of repetitive amplicons and is therefore highly susceptible to structural rearrangements, such as deletions and duplications. The b2/b3 deletion is a partial AZFc deletion that is conventionally determined by the selective absence of sY1191 in sequence-tagged site polymerase chain reaction (PCR) and is generally believed to retain two of the four deleted in azoospermia (DAZ) genes on the Y chromosome. In the present study we determined the copy number and expression of DAZ genes in sY1191-negative individuals. Using a DAZ dosage PCR assay and Southern blot analysis we evaluated the expression of four DAZ genes in five of six sY1191-negative individuals. Furthermore, cloning and immunoblot analyses revealed that three or more DAZ genes are expressed in sY1191-negative testes with germ cells. The results indicate that the selective absence of sY1191 not only means b2/b3 deletion with two DAZ genes, but also includes another AZFc configuration with four DAZ genes. These results exemplify the prevalence of variations in the AZFc region of the human Y chromosome.

scholarly journals Gene copy number reduction in the azoospermia factor c (AZFc) region and its effect on total motile sperm count

2011 ◽  
Vol 20 (12) ◽  
pp. 2457-2463 ◽  
Author(s):  
Michiel J. Noordam ◽  
G. Henrike Westerveld ◽  
Suzanne E. Hovingh ◽  
Saskia K.M. van Daalen ◽  
Cindy M. Korver ◽  
...  
Keyword(s):  
Copy Number ◽  
Sperm Count ◽  
Gene Copy Number ◽  
Gene Copy ◽  
Motile Sperm ◽  
Azfc Region ◽  
Azoospermia Factor ◽  
Factor C ◽  
Total Motile Sperm Count

A family of human Y chromosomes has dispersed throughout northern Eurasia despite a 1.8-Mb deletion in the azoospermia factor c region

Genomics ◽  
2004 ◽  
Vol 83 (6) ◽  
pp. 1046-1052 ◽  
Author(s):  
Sjoerd Repping ◽  
Saskia K.M. van Daalen ◽  
Cindy M. Korver ◽  
Laura G. Brown ◽  
Janet D. Marszalek ◽  
...  
Keyword(s):  
Northern Eurasia ◽  
Azoospermia Factor ◽  
Y Chromosomes ◽  
Factor C

GR/GR deletions within the azoospermia factor c region on the Y chromosome might not be associated with spermatogenic failure

2006 ◽  
Vol 85 (1) ◽  
pp. 229-231 ◽  
Author(s):  
Celia Ravel ◽  
Sandra Chantot-Bastaraud ◽  
Brahim El Houate ◽  
Jacqueline Mandelbaum ◽  
Jean-Pierre Siffroi ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Azoospermia Factor ◽  
Factor C ◽  
Spermatogenic Failure

scholarly journals A common 1.6 Mb Y-chromosomal inversion predisposes to subsequent deletions and severe spermatogenic failure in humans

2020 ◽  
Author(s):  
Pille Hallast ◽  
Laura Kibena ◽  
Margus Punab ◽  
Elena Arciero ◽  
Siiri Rootsi ◽  
...  
Keyword(s):  
Male Infertility ◽  
Genetic Factors ◽  
Gene Dosage ◽  
Severe Oligozoospermia ◽  
Azoospermia Factor ◽  
Reproductive Decision ◽  
Reproductive Decision Making ◽  
Carrier Identification ◽  
Factor C ◽  
Spermatogenic Failure

AbstractMale infertility is a prevalent condition, concerning 5-10% of men. So far, only some recurrent genetic factors have been described as confident contributors to spermatogenic failure. Here, we report the first re-sequencing study of the Y-chromosomal Azoospermia Factor c (AZFc) region combined with gene dosage and Y-haplogroup determination. In analysing 2,324 Estonian men, we uncovered a novel structural variant as a high-penetrant risk factor to male infertility. The Y lineage R1a1-M458, reported at >20% frequency in several European populations, carries a fixed ∼1.6 Mb long r2/r3 inversion destabilizing the AZFc region and predisposing to recurrent microdeletions. Such complex rearrangements were significantly enriched among severe oligozoospermia cases. The carrier vs non-carrier risk to spermatogenic failure was increased 8.6-fold (p = 6.0 × 10−4). The finding contributes to improved molecular diagnostics and clinical management of infertility. Carrier identification in young age will facilitate timely counselling and reproductive decision-making.

scholarly journals Azoospermia factor C subregion of the Y chromosome

2017 ◽  
Vol 10 (4) ◽  
pp. 256 ◽  
Author(s):  
JenabhaiB Chauhan ◽  
Mili Nailwal
Keyword(s):  
Y Chromosome ◽  
Azoospermia Factor ◽  
Factor C
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