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Background: habitual abortion is a common obstetric diseases, clinical habits defined as: abortion more than three times in a row or three times. But now, a lot of clinical experts tend to define it as: abortion 2 times in a row or more than 2 times. The cause of habitual abortion is extremely complicated, including genetic, immune, anatomy, endocrine, infection and other abnormalities, and nearly 50% of habitual abortion etiology remains unclear - is called primary habitual abortion. In order to find the susceptibility loci for primary habitual abortion, and provide new insights into its etiology, we conducted a pilot study of genome-wide association studies. Materials and Methods: This test collected 44 cases of primary habitual abortion patients (2 or more consecutive miscarriages occurred before 12 weeks of pregnancy) and 44 healthy controls matched by gender, race relative blood specimens from extracting the DNA, and then diluted to 20ng/ul standby. The same amount of DNA taken from 44 patients and 44 healthy control samples to build the pool and the control of patient-DNA-DNA pool. The selection of the Applied Biosystems 430 with 6-FAM, VIC, NED fluorescent microsatellite markers were tested. Among them, 400 microsatellite markers distributed in the whole genome of 22 pairs of autosomes and the X chromosome, the average spacing of 10 cM; remaining 30 microsatellite markers located on the X chromosome, average pitch 5cM. In this study, the experimental design of the two-step method to carry out the work as follows: First, the preliminary screening, to obtain positive primary habitual abortion microsatellite markers using DNA pool; Secondly, these positive microsatellite markers individual genotyping and statistical analysis, in order to test the accuracy of the results of the initial screening positive. Results: We found that the three regions is closely related to the primary habitual abortion 6q27 (D6S446, P = 0.028), 9q33.1 (D9S1776, P = 0.037) and Xp22.11 (DXS1226, p = 0.008, respectively). Conclusion: This is the first to explore the primary habitual abortion susceptibility gene loci of genome-wide association studies, and three primary habitual abortion-related genetic loci. Be a sample of the study and the number of microsatellite markers on limited terms - this is only a preliminary study results also need a larger sample and more research to verify it.
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