Case report: birth of healthy twins after preimplantation genetic diagnosis of propionic acidemia
Case report: birth of healthy twins after preimplantation genetic diagnosis of propionic acidemia
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DOI：
10.1007/s10815-010-9514-4
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发表时间：
2011-03-01
影响因子：
3.1
通讯作者：
Calatayud, Carmen
中科院分区：
文献类型：
--
作者：
Alberola, Trinitat M.;Bautista-Llacer, Rosa;Calatayud, Carmen
目的建立一种预防性遗传学诊断方法，对携带c基因突变的夫妇进行丙酸血症的预防性遗传学诊断。737 G>T（G246 V）和c.1218del14ins12（ins/del）。丙酸血症是一种常染色体隐性遗传代谢紊乱，其中身体不能处理蛋白质和脂质的某些部分。症状在出生后几天就表现出来，有时会发展成更严重的医疗问题，包括心脏异常，昏迷和死亡。方法检测与PCCB基因紧密连锁的4个短串联重复序列标记，以支持直接突变检测诊断。多重荧光半巢式聚合酶链反应，随后片段分析和minisequencingwasused.Results 14个单卵裂球从9个胚胎进行了测试，两个载体胚胎被转移，导致两个健康的boy.Conclusions植入前基因诊断是一个有效的生殖选择的夫妇丙酸血症的影响，以避免传播给后代。
Purpose Development of an ad hoc protocol for the preimplantion genetic diagnosis of propionic acidemia in a couple carrying the mutations c. 737G>T (G246V) and c.1218del14ins12 (ins/del) in the PCCB gene. Propionic acidemia is an autosomal recessive metabolic disorder where the body is unable to process certain parts of proteins and lipids. Symptoms manifest few days after birth and sometimes progress to more serious medical problems, including heart abnormalities, coma and death.Methods Four short tandem repeat markers closely linked to the PCCB gene were tested, in order to support the direct mutation detection diagnosis. Multiplex fluorescent heminested polymerase chain reaction followed by fragment analysis and minisequencing was used.Results Fourteen single blastomeres from nine embryos were tested and two carrier embryos were transferred, resulting in the birth of two healthy boys.Conclusions Preimplantation genetic diagnosis represents a valid reproductive option for couples affected of propionic acidemia, in order to avoid transmission to offspring.