Preimplantation Genetic Diagnosis for β-Thalassemia Combined with HLA Matching

سال انتشار: 1398
نوع سند: مقاله کنفرانسی
زبان: انگلیسی
مشاهده: 283

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شناسه ملی سند علمی:

RROYAN20_179

تاریخ نمایه سازی: 29 مهر 1398

چکیده مقاله:

Introduction: Beta-thalassemia is an inherited anemia with fatal consequences that can be treated by hematopoietic stem cell transplantation (HSCT) and prevented by preimplantation genetic diagnosis (PGD) of embryos of carrier parents. Search-ing for appropriate donors with HLA typing acceptable for transplantation is not always fruitful. The success rate of the procedure is higher if compatible HLA could be found among siblings. Combined PGD-HLA typing has been introduced and carried out throughout the world in recent years for reproducing offspring both healthy and suitable for transplantation.Materials and Methods: In our center a female blood transfu-sion dependent beta-thalassemia patient with parents eager for another child was selected for HSCT from the product of in vitro fertilization after PGD-HLA typing. Six to eight cells from trophectoderm of 12 blastocyst of one IVF cycle were obtained without damaging the inner cell mass. Primarily genome DNAs underwent whole genome amplification while embryos were frozen till the genetic tests results were available. All samples were tested for beta-thalassemia mutations using primers spe-cifically designed for this purpose. one healthy, 3 minor thalas-semia, and 8 major thalassemia was the outcome. In order to avoid possibility of allele drop-out disturbing the assessment of mutation for thalassemia 10 predesigned loci of heterogene short tandem repeats for parents and embryos were examined. Common chromosome anomalies for chromosomes 13, 15, 16, 18, 21, and 22 were checked as well as sex chromosomes. Among 4 embryos that did not have major thalassemia 2 were boys. Twenty HLA loci were assessed and 8 were applied for HLA typing with the affected child of the family. Matched HLA were detected in 1 healthy boy and 1 minor thalassemia girl.Result: The pregnancy is ongoing after the healthy male embryo was implanted and in the 7th week pregnancy was con-firmed. Amniocentesis result was healthy embryo with HLA matched for HSCT.Conclusion: HLA typing in adjunct to genetic testing for pa-tients in need of HSCT by PGD is an appropriate novel ap-proach for reproducing healthy child with matched HLA for the siblings in need of HSCT.

نویسندگان

R Pazhoomand

Laboratory of Genetics, Shiraz Infertility Center, Shiraz, Iran