Cytogenetic Analysis and Thrombophilia-Associated Gene Mutations of Couples with Recurrent Miscarriage
- *Corresponding Author:
- Emine Ikbal Atli
Department of Medical Genetics, Faculty of Medicine
Trakya University, Campus Of Balkan, D100 Street, Edirne 22030, Turkey
E-mail: [email protected]
Received date: June 16, 2016; Accepted date: August 09, 2016; Published date: August 16, 2016
Citation: Atli EI, Gurkan H, Tozkir H, Ozen Y, Ulusal S, et al. (2016) Cytogenetic Analysis and Thrombophilia-Associated Gene Mutations of Couples with Recurrent Miscarriage. J Fertil In Vitro IVF Worldw Reprod Med Genet Stem Cell Biol 4:189. doi:10.4172/2375-4508.1000189
Copyright: © 2016 Atli EI, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Introduction: Three or more pregnancy losses before 20 weeks of gestation are usually defined as recurrent miscarriage. Parental chromosomal translocations, thrombophilic gene polymorphisms, autoimmune factors, uterine, endocrine factors associated with recurrent miscarrige (RM). Factor V Leiden, prothrombin gene mutation G20210A, protein S/Protein C/antithrombin deficiency and MTHFR mutations responsible for hereditary thrombophilia and has been included to keep a very common practice of RM pathogenesis. This study aimed to determine the incidence of these factors believed to be the effects of RM. Materials and methods: All patients were took a full genetic analysis; full genetic examination and pedigree drawing was done to exclude known nonchromosomal causes of the anomaly. Cytogenetic analysis was done for 635 patients. The study included peripheral lymphocyte culture by a standard method using Leishmann-banding technique, centromerebanding (C-banding), and nucleolar organizing region staining was done when needed. Pyrosequencing was used to genotype the 392 individual. Results: Male/female in patients with an inherited thrombophilia tested four types of changes, including; MTHFR C677T/1298, FV Leiden G1691A and prothrombin G20210A. Among them, 152 men and woman did not carry any mutation.