Stargardt 病的胚胎植入前遗传学诊断。
Preimplantation genetic diagnosis for stargardt disease.
机构信息
Department of Ophthalmology, Columbia University, New York, NY 10032, USA.
出版信息
Am J Ophthalmol. 2010 Apr;149(4):651-655.e2. doi: 10.1016/j.ajo.2009.11.029. Epub 2010 Feb 10.
PURPOSE
To report the first use of in vitro fertilization (IVF) and preimplantation genetic diagnosis to achieve an unaffected pregnancy in an autosomal-recessive retinal dystrophy.
DESIGN
Case report.
METHODS
An affected male with Stargardt disease and his carrier wife underwent IVF. Embryos obtained by intracytoplasmic sperm injection underwent single-cell DNA testing via polymerase chain reaction and restriction enzyme analysis to detect the presence of ABCA4 mutant alleles. Embryos were diagnosed as being either affected by or carriers for Stargardt disease. A single carrier embryo was implanted.
RESULTS
Chorionic villus sampling performed during the first trimester verified that the fetus possessed only 1 mutant paternal allele and 1 normal maternal allele, thus making her an unaffected carrier of the disease. A healthy, live-born female was delivered.
CONCLUSION
IVF and preimplantation genetic diagnosis can assist couples with an affected spouse and a carrier spouse with recessive retinal dystrophies to have an unaffected child.
目的
报告首例应用体外受精（IVF）和胚胎植入前遗传学诊断技术，使常染色体隐性视网膜营养不良患者成功妊娠，且不带有致病基因。
设计
病例报告。
方法
一对夫妇，男方患有斯塔加特病，为该病的致病基因携带者，女方正常。对这对夫妇进行 IVF 治疗。通过聚合酶链反应和限制性内切酶分析对卵胞浆内单精子注射得到的胚胎进行单细胞 DNA 检测，以检测 ABCA4 突变等位基因的存在。将胚胎诊断为受累或为该病的携带者。移植了一个正常的胚胎。
结果
妊娠早期进行绒毛活检，证实胎儿只携带 1 个父源突变等位基因和 1 个正常母源等位基因，因此，她是该病的无症状携带者。一个健康的女婴顺利出生。
结论
IVF 和胚胎植入前遗传学诊断可以帮助携带隐性视网膜营养不良致病基因的夫妇生育一个不携带致病基因的健康后代。
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