Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.
Department of Embryology, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.
JBRA Assist Reprod. 2020 May 1;24(2):227-230. doi: 10.5935/1518-0557.20190085.
Classical 3β-HSD deficiency due to mutations in the HSD3B2 gene is responsible for a rare form of congenital adrenal hyperplasia (CAH) and is identified by varying degrees of salt wasting. Preimplantation genetic diagnosis (PGD) was performed in a couple carrying mutation c.690 G>A in the HSD3B2 gene. Four polymorphic short tandem repeat markers closely linked to the HSD3B2 gene (D1S185, D1S453, D1S514, D1S540) for linkage analysis in conjunction with the direct mutation analysis were used in embryo genotyping. Two CODIS STRs (VWA and THO1) were also used to confirm embryo zygosity and rule out possible contaminations. Finally, SRY and AMYLOGENIN markers were used for embryo sex determination. PGD was performed by fluorescent multiplex seminested polymerase chain reaction and sequencing. Six embryos were tested and one male carrier embryo was transferred, resulting in the birth of a healthy boy.
由于 HSD3B2 基因突变导致的经典 3β-HSD 缺陷是一种罕见的先天性肾上腺皮质增生症（CAH）的病因，其特征是不同程度的盐耗竭。一对携带 HSD3B2 基因突变 c.690G>A 的夫妇进行了胚胎植入前遗传学诊断（PGD）。采用与直接突变分析相结合的连锁分析，使用与 HSD3B2 基因紧密连锁的四个多态性短串联重复标记物（D1S185、D1S453、D1S514、D1S540）对胚胎进行基因分型。还使用了两个 CODIS STR（VWA 和 THO1）来确认胚胎的合子性并排除可能的污染。最后，使用 SRY 和 AMYLOGENIN 标记物进行胚胎性别鉴定。PGD 通过荧光多重巢式聚合酶链反应和测序进行。共检测了 6 个胚胎，移植了一个男性携带者胚胎，最终诞生了一个健康的男孩。
