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对δ-F508突变(主要突变发生囊性纤维变性)进行受精前和种植前遗传诊断研究。研究对象为四对夫妇各有一个患囊性纤维变性(CF)的孩子,另一对为参加体外受精(IVF)的夫妇,通过携带者检测发现有δ-F508突变杂合子。卵泡刺激物用常规CC/hMG方法,通过阴道超声引导回收卵母细胞后进行培养并去除卵丘细胞。用显微操作法吸出第一极体,将极体挤入装有HPLC级水的试管内进行遗传分析。卵母细胞在用硅胶密度技术制备含有1.5×10~5个活动精子液中受精。受精后15小时观察原核出
Pre-fertilization and preimplantation genetic diagnosis of δ-F508 mutations (major mutations in cystic fibrosis) were performed. The study population consisted of four children with cystic fibrosis (CF) each, and the other couples who participated in in vitro fertilization (IVF). The carrier detected delta-F508 mutant heterozygotes. Follicle stimulants were routinely cultured using CCI / hMG method by transvaginal sonography and then cultured to remove cumulus cells. The first polar body was aspirated by micromanipulation and the polar bodies were squeezed into tubes containing HPLC grade water for genetic analysis. Oocytes are fertilized in liquid containing 1.5 × 10 ~ 5 motile sperm prepared using silica gel technique. 15 hours after fertilization observed the original nuclear