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首页> 外文期刊>Einstein (So Paulo) >Preimplantation genetic diagnosis for cystic fibrosis: a case report
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Preimplantation genetic diagnosis for cystic fibrosis: a case report

机译：囊性纤维化的植入前遗传学诊断：一例报告

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Cystic fibrosis is an autosomal recessive disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator gene. This disorder produces a variable phenotype including lung disease, pancreatic insufficiency, and meconium ileus plus bilateral agenesis of the vas deferens causing obstructive azoospermia and male infertility. Preimplantation genetic diagnosis is an alternative that allows identification of embryos affected by this or other genetic diseases. We report a case of couple with cystic fibrosis; the woman had the I148 T mutation and the man had the Delta F508 gene mutation. The couple underwent in vitro fertilization, associated with preimplantation genetic diagnosis, and with subsequent selection of healthy embryos for uterine transfer. The result was an uneventful pregnancy and delivery of a healthy male baby.
机译：囊性纤维化是一种常染色体隐性遗传疾病，由囊性纤维化跨膜电导调节基因的突变引起。这种疾病产生可变的表型，包括肺部疾病，胰腺功能不全和胎粪性肠梗阻以及输精管的双侧发育不全，引起阻塞性无精子症和男性不育。植入前遗传学诊断是一种替代方法，可用于鉴定受此或其他遗传疾病影响的胚胎。我们报告了一例伴有囊性纤维化的病例。女人有I148 T突变，男人有Delta F508基因突变。这对夫妇进行了体外受精，与植入前的遗传学诊断有关，并随后选择了健康的胚胎进行子宫移植。结果是顺利怀孕并分娩出健康的男婴。

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