scholarly journals Screening of mutations and polymorphism in CFRT gene in men infertile due to oligo- or azospermia

2002 ◽  
Vol 130 (1-2) ◽  
pp. 1-6 ◽  
Author(s):  
Jelena Kusic ◽  
Dragica Radojkovic ◽  
Vinka Maletic-Vukotic ◽  
Snezana Brankovic ◽  
Ana Savic
Keyword(s):  
Assisted Reproduction ◽  
Sperm Maturation ◽  
Cftr Gene ◽  
Obstructive Azoospermia ◽  
High Incidence

We concluded that CFTR gene plays a role in the etiology of obstructive azoospermia and that it also could be involved in same cases of impaired spermatogenesis and sperm maturation. Due to the high incidence of CFRT mutations in patients with obstructive azoospermia we suggest screening of CFRT mutations before assisted reproduction.

scholarly journals Novel cause of hereditary obstructive azoospermia: a T2 allele in the CFTR gene

2009 ◽  
Vol 18 (3) ◽  
pp. 327-332 ◽  
Author(s):  
Ramin Radpour ◽  
Elahe Taherzadeh-Fard ◽  
Hamid Gourabi ◽  
Sahar Aslani ◽  
Ahmad Vosough Dizaj ◽  
...  
Keyword(s):  
Cftr Gene ◽  
Obstructive Azoospermia

The CFTR gene: male infertility and assisted conception

1999 ◽  
Vol 7 (2) ◽  
pp. 155-160 ◽  
Author(s):  
S Kulshrestha ◽  
A Makrigiannakis ◽  
P Patrizio
Keyword(s):  
Male Infertility ◽  
Vas Deferens ◽  
Cftr Gene ◽  
Obstructive Azoospermia ◽  
Male Factor Infertility ◽  
Assisted Conception ◽  
Male Factor ◽  
Fertility Treatments ◽  
Bilateral Absence ◽  
Testicular Failure

Approximately 30–40% of couples seeking fertility treatments have male factor infertility. Their dysfunctions include azoospermia, oligozoospermia, asthenozoospermia and teratozoospermia. Those with azoospermia represent about 25% of the total, and of these about 30% have an obstructive process while the remaining have either primary or secondary testicular failure. In the obstructive azoospermia group, 25% of males have congenital bilateral absence of the vas deferens (CBAVD).

Increased frequency of CFTR gene mutations identified in Indian infertile men with non-CBAVD obstructive azoospermia and spermatogenic failure

Gene ◽  
2014 ◽  
Vol 548 (1) ◽  
pp. 43-47 ◽  
Author(s):  
Himanshu Sharma ◽  
Ravimohan S. Mavuduru ◽  
Shrawan Kumar Singh ◽  
Rajendra Prasad
Keyword(s):  
Gene Mutations ◽  
Cftr Gene ◽  
Obstructive Azoospermia ◽  
Infertile Men ◽  
Cftr Gene Mutations ◽  
Spermatogenic Failure

scholarly journals Screening of mutations in the CFTR gene in 1195 couples entering assisted reproduction technique programs

2005 ◽  
Vol 13 (8) ◽  
pp. 959-964 ◽  
Author(s):  
Liborio Stuppia ◽  
Ivana Antonucci ◽  
Francesco Binni ◽  
Alessandra Brandi ◽  
Nicoletta Grifone ◽  
...  
Keyword(s):  
Assisted Reproduction ◽  
Cftr Gene ◽  
Assisted Reproduction Technique

CFTR gene mutations and polymorphism are associated with non-obstructive azoospermia: From case-control study

Gene ◽  
2017 ◽  
Vol 626 ◽  
pp. 282-289 ◽  
Author(s):  
Lingying Jiang ◽  
Jiamin Jin ◽  
Shasha Wang ◽  
Fuxing Zhang ◽  
Yongdong Dai ◽  
...  
Keyword(s):  
Case Control Study ◽  
Gene Mutations ◽  
Case Control ◽  
Cftr Gene ◽  
Obstructive Azoospermia ◽  
Cftr Gene Mutations ◽  
Control Study

scholarly journals Analysis of Y chromosome microdeletions and CFTR gene mutations as genetic markers of infertility in Serbian men

2007 ◽  
Vol 64 (4) ◽  
pp. 253-256 ◽  
Author(s):  
Jelena Dinic ◽  
Jelena Kusic ◽  
Аleksandra Nikolic ◽  
Aleksandra Divac ◽  
Momcilo Ristanovic ◽  
...  
Keyword(s):  
Male Infertility ◽  
Y Chromosome ◽  
Assisted Reproduction ◽  
Sperm Quality ◽  
Gene Mutations ◽  
Cftr Gene ◽  
Common Mutation ◽  
Infertile Men ◽  
Y Chromosome Microdeletions ◽  
Cftr Gene Mutations

Background/Aim. Impaired fertility of a male partner is the main cause of infertility in up to one half of all infertile couples. At the genetic level, male infertility can be caused by chromosome aberrations or gene mutations. The presence and types of Y chromosome microdeletions and cystic fybrosis transmembrane conductance regulator (CFTR) gene mutations as genetic cause of male infertility was tested in Serbian men. The aim of this study was to analyze CFTR gene mutations and Y chromosome microdelations as potential causes of male infertility in Serbian patients, as well as to test the hypothesis that CFTR mutations in infertile men are predominantly located in the several last exons of the gene. Methods. This study has encompassed 33 men with oligo- or azoospermia. The screening for Y chromosome microdeletions in the azoospermia factor (AZF) region was performed by multiplex PCR analysis. The screening of the CFTR gene was performed by denaturing gradient gel electrophoresis (DGGE) method. Results. Deletions on Y chromosome were detected in four patients, predominantly in AZFc region (four of total six deletions). Mutations in the CFTR gene were detected on eight out of 66 analyzed chromosomes of infertile men. The most common mutation was F508del (six of total eight mutations). Conclusion. This study confirmed that both Y chromosome microdeletions and CFTR gene mutations played important role in etiology of male infertility in Serbian infertile men. Genetic testing for Y chromosome microdeletions and CFTR gene mutations has been introduced in routine diagnostics and offered to couples undergoing assisted reproduction techniques. Considering that both the type of Y chromosome microdeletion and the type of CFTR mutation have a prognostic value, it is recommended that AZF and CFTR genotyping should not only be performed in patients with reduced sperm quality before undergoing assisted reproduction, but also for the purpose of preimplantation and prenatal diagnostics in couples in which in vitro fertilization has been performed successfully.

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