Clinical and prognostic importance of chromosomal abnormalities, Y chromosome microdeletions, and CFTR gene mutations in individuals with azoospermia or severe oligospermia

Zeynep OCAK; Uğur ÜYETÜRK; Muhammet Murat DİNÇER

doi:https://doi.org/10.3906/sag-1301-67

Makale detayları

Clinical and prognostic importance of chromosomal abnormalities, Y chromosome microdeletions, and CFTR gene mutations in individuals with azoospermia or severe oligospermia

Yazarlar:

Zeynep OCAK | Uğur ÜYETÜRK | Muhammet Murat DİNÇER

Yayıncı:

TUBITAK

Ana Başlıklar:

Sağlık teşvikleri

Dergi:

Turkish Journal of Medical Sciences 2014 Vol.44 Issue 2, pp.347-351

Belge Tipi:

Makale

Yayın Tarihi:

5/2014

Belge Dili:

İngilizce

Document ID (Org No.):

2000753375

Sıklık:

İki Aylık

eISSN:

1303-6165

pISSN:

1300-0144

DOI:

https://doi.org/10.3906/sag-1301-67

Anahtar kelimeler:

Özet:

 

To illustrate the importance of genetic screening in the assessment of fertility and the correct diagnosis in patients with azoospermia or severe oligospermia.  Materials and methods: This study examined 500 patients with reproductive failure, having fewer than 5 million sperm/mL detected in at least 2 consecutive spermiograms, who presented at a medical genetics polyclinic between 2008 and 2012. Metaphase preparations obtained from cell cultures were stained by trypsin-Giemsa banding. After DNA isolation, Y chromosome loci, including AZFa (SY84, SY86), AZFb (SY127, SY134), AZFc (SY254 SY255), and AZFd, were amplified by polymerase chain reaction using specific primers. Thirty-five patients with congenital unilateral absence of the vas deferens or congenital bilateral absence of the vas deferens (CBAVD) and a positive cystic fibrosis family history were evaluated for cystic fibrosis transmembrane conductance regulator gene mutations.   Results: No chromosomal abnormalities were noted in 440 (88%) of the 500 patients, whereas structural or numerical chromosomal abnormalities were detected in 60 patients (12%). Individuals with Y deletions made up 5.6% (n = 28) of the study sample. Three patients with no AZF deletion or chromosomal abnormality, but with CBAVD, were heterozygous for I148T, G1130A, or IVS3 406-3T>C mutations.   Conclusion: This study shows that genetic testing can make an important contribution to the treatment of patients planning in vitro fertilization due to azoospermia or severe oligospermia.

 

To illustrate the importance of genetic screening in the assessment of fertility and the correct diagnosis in patients with azoospermia or severe oligospermia.  Materials and methods: This study examined 500 patients with reproductive failure, having fewer than 5 million sperm/mL detected in at least 2 consecutive spermiograms, who presented at a medical genetics polyclinic between 2008 and 2012. Metaphase preparations obtained from cell cultures were stained by trypsin-Giemsa banding. After DNA isolation, Y chromosome loci, including AZFa (SY84, SY86), AZFb (SY127, SY134), AZFc (SY254 SY255), and AZFd, were amplified by polymerase chain reaction using specific primers. Thirty-five patients with congenital unilateral absence of the vas deferens or congenital bilateral absence of the vas deferens (CBAVD) and a positive cystic fibrosis family history were evaluated for cystic fibrosis transmembrane conductance regulator gene mutations.   Results: No chromosomal abnormalities were noted in 440 (88%) of the 500 patients, whereas structural or numerical chromosomal abnormalities were detected in 60 patients (12%). Individuals with Y deletions made up 5.6% (n = 28) of the study sample. Three patients with no AZF deletion or chromosomal abnormality, but with CBAVD, were heterozygous for I148T, G1130A, or IVS3 406-3T>C mutations.   Conclusion: This study shows that genetic testing can make an important contribution to the treatment of patients planning in vitro fertilization due to azoospermia or severe oligospermia.

Makale detayları

Clinical and prognostic importance of chromosomal abnormalities, Y chromosome microdeletions, and CFTR gene mutations in individuals with azoospermia or severe oligospermia

Yazarlar:

Zeynep OCAK | Uğur ÜYETÜRK | Muhammet Murat DİNÇER

Yayıncı:

TUBITAK

Ana Başlıklar:

Sağlık teşvikleri

Dergi:

Turkish Journal of Medical Sciences 2014 Vol.44 Issue 2, pp.347-351

Belge Tipi:

Makale

Yayın Tarihi:

5/2014

Belge Dili:

İngilizce

Document ID (Org No.):

2000753375

Sıklık:

İki Aylık

eISSN:

1303-6165

pISSN:

1300-0144

DOI:

https://doi.org/10.3906/sag-1301-67

Key words: Infertility

Y chromosome microdeletion

cystic fibrosis transmembrane conductance regülatör

Sayı

Makale detayları

Clinical and prognostic importance of chromosomal abnormalities, Y chromosome microdeletions, and CFTR gene mutations in individuals with azoospermia or severe oligospermia

Yazarlar: Zeynep OCAK | Uğur ÜYETÜRK | Muhammet Murat DİNÇER

Yayıncı: TUBITAK

Ana Başlıklar: Sağlık teşvikleri

Dergi: Turkish Journal of Medical Sciences 2014 Vol.44 Issue 2, pp.347-351

Belge Tipi: Makale

Yayın Tarihi: 5/2014

Belge Dili: İngilizce

Document ID (Org No.): 2000753375

Sıklık: İki Aylık

eISSN: 1303-6165

pISSN: 1300-0144

DOI: https://doi.org/10.3906/sag-1301-67

Key words: Infertility

Y chromosome microdeletion

cystic fibrosis transmembrane conductance regülatör

Sayı

Yazarlar:

Zeynep OCAK | Uğur ÜYETÜRK | Muhammet Murat DİNÇER

Yayıncı:

TUBITAK

Ana Başlıklar:

Sağlık teşvikleri

Dergi:

Turkish Journal of Medical Sciences 2014 Vol.44 Issue 2, pp.347-351

Belge Tipi:

Makale

Yayın Tarihi:

5/2014

Belge Dili:

İngilizce

Document ID (Org No.):

2000753375

Sıklık:

İki Aylık

eISSN:

1303-6165

pISSN:

1300-0144

DOI:

https://doi.org/10.3906/sag-1301-67