ECE2015 Eposter Presentations Reproduction, endocrine disruptors and signalling (92 abstracts)
XbaI and PvuII oestrogen receptor alpha gene polymorphism and Y chromosome deletions in infertile vs fertile men
Suzana Vladoiu 1 , Dana Dinu 1 , Gabriela Anton 2 , Anca Botezatu 2 , Dana Manda 1 , Sabina Oros 1 , Olga Ianas 1 , Diana Paun 1 , Corin Badiu 1 & Roxana Rosca 1
1C.I.Parhon National Institute of Endocrinology, Bucharest, Romania; 2Stefan S. Nicolau Institute of Virology, Bucharest, Romania.
Only a few genes involved in spermatogenesis have clinical importance: Y chromosome micro deletions in the region called azoospermia factor (AZF) and oestrogen receptor alpha gene polymorphisms (ESR1).
Objective: The study aim to evaluate ESR1 and Y chromosome deletion in infertile men.
Subjects and methods: 43 infertile men, and 34 fertile men aged 20–50 years 50, were enrolled after signing the informed consent. Screening for microdeletions in the azoospermia factor (AZF) region of Y chromosome was performed by multiplex PCR and oestrogen receptor alpha (ESR1) gene polymorphisms XbaI and PvuII was performed by RFLP.
Results: In infertile patients ESR XbaI polymorphism 15 cases were wild type homozygote (XX), 23 heterozygote (Xx) and four mutant homozygote (xx). The frequency of x allele was 0.37, and 0.63 for X allele, χ2=1.299. In normal patients ESR XbaI polymorphism 14 cases were homozygote for normal allele (XX), 17 were heterozygote (Xx) and three were mutant homozygote (xx). The frequency of x allele in population was 0.34, for X allele the frequency was 0.66, χ2=0.464. In infertile patients ESR PvuII polymorphism 12 cases were homozygote (PP), 22 were heterozygote (Pp) and eight were mutant homozygote (pp). The frequency of p allele was 0.45, and 0.55 for P allele, χ2=0.137. In normal patients ESR PvuII polymorphism ten cases were homozygote for normal allele PP), 18 were heterozygote (Pp) and six were mutant homozygote (pp). The frequency of p allele was 0.44, for P allele the frequency was 0.56, χ2=0.184. 6.97% of all patients presented microdeletions in AZFc region and 2.32% in AZFb region, 6.97% in AZFb and AZFc regions.
Conclusion: For the two ESR1 studied polymorphism the investigated group is in HW equilibrum. No significant differences were found between the mutant allele’s frequency between the infertile patients and the control group.
Disclosure: Acknowledgement: This work received financial support through the project entitled ‘CERO – Career profile: Romanian Researcher’, grant number POSDRU/159/1.5/S/135760, co-financed by the European Social Fund for Sectorial Operational.
Article tools
My recent searches
My recently viewed abstracts
Authors
Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
© Bioscientifica 2024 |
Privacy policy |
Cookie settings
BiosciAbstracts
Bioscientifica Abstracts is the gateway to a series of products that provide a permanent, citable record of abstracts for biomedical and life science conferences.
Find out more