受精ジャーナル:体外受精 - 体外受精 - 世界中、生殖医学、遺伝学、幹細胞生物学
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概要

Cytogenetic Analysis and Thrombophilia-Associated Gene Mutations of Couples with Recurrent Miscarriage

Emine Ikbal Atli

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.