Liss Joanna, Bruszczyńska Anna, Łukaszuk Krzysztof
Invicta, Kliniki i Laboratoria Medyczne, Gdańsk.
Ginekol Pol. 2010 Dec;81(12):918-21.
Preimplantation genetic diagnosis, PGD, is an established procedure allowing genetic research of the oocyte or embryo before implantation to the uterus. A neurodegenerative disorder known as spinal muscular atrophy (SMA) is the second most common lethal autosomal recessive disease in Caucasians, after cystic fibrosis. There are three clinically different types of the disease, with type I (Werding-Hoffman Disease) being the most severe. Around 98% of clinical cases of SMA are caused by the homozygous absence of a region of exons 7 and 8 of the telomeric copy of the SMN gene (SMN1) on chromosome 5 (5q13.3).
The aim of the present work was to performed PGD for SMA in 5 couples who had already had a child affected with SMA.
All patients underwent a standard IVF procedure associated with intracytoplasmic sperm injection. 6-8 cell embryos were biopsied on day 3 of culture. Single cell nested PCR-RFLP protocol for PGD of SMA was used for the detection of the mutation.
In the course of IVF-PGD procedures all patients had a transfer of embryos without SMN1 deletions. Four out of the five couples delivered healthy babies.
Preimplantation genetic diagnosis (PGD) of monogenic disorders is a very efficient method, especially for patients whose previous child is homozygous for genetic disorders. It offers new possibilities for the treatment for genetic disease carriers.
植入前基因诊断（PGD）是一种成熟的技术，可在将卵母细胞或胚胎植入子宫前对其进行基因研究。脊髓性肌萎缩症（SMA）是一种神经退行性疾病，是高加索人中仅次于囊性纤维化的第二常见致死性常染色体隐性疾病。该疾病有三种临床不同类型，其中I型（韦丁 - 霍夫曼病）最为严重。约98%的SMA临床病例是由5号染色体（5q13.3）上SMN基因（SMN1）端粒拷贝的外显子7和8区域纯合缺失引起的。
本研究的目的是为5对已有患SMA患儿的夫妇进行SMA的植入前基因诊断。
所有患者均接受了与卵胞浆内单精子注射相关的标准体外受精程序。在培养第3天对6 - 8细胞胚胎进行活检。采用用于SMA植入前基因诊断的单细胞巢式PCR - RFLP方案检测突变。
在体外受精 - 植入前基因诊断过程中，所有患者均移植了无SMN1缺失的胚胎。5对夫妇中有4对产下了健康婴儿。
单基因疾病的植入前基因诊断（PGD）是一种非常有效的方法，尤其对于之前的孩子患有纯合基因疾病的患者。它为遗传病携带者的治疗提供了新的可能性。
