【摘要】：為避免產前診斷如絨毛活檢或羊水診斷所致選擇性流產,提出了植入前遺傳學診斷(preimplantation genetic diagnosis, PGD)的思想,目前已廣泛用于基因或染色體異常高風險夫婦的遺傳學篩查。大多通過卵裂球活檢進行遺傳學分析和診斷,選擇正常無遺傳缺陷的胚胎移植入子宮以生育健康的后代。但胚胎染色體非整倍體嵌合率較高,可導致誤診。卵裂球活檢是對胚胎本身進行操作,具有高度侵入性。為避免卵裂期胚胎活檢可能對胚胎發(fā)育能力的影響,提出了用第一極體(the first polar body, 1PB)分析的思想以預測卵母細胞的基因型。由于減數(shù)分裂時染色體重組,約半數(shù)1PB可能為雜合子。如果不同時檢測第二極體(the second polar body, 2PB),大量來自1PB檢測后診斷為雜合子的卵母細胞的胚胎的基因型不能預測。為了確保第二次減數(shù)分裂后形成的半合子正常卵細胞能被檢測并挑選出來,又引入了2PB分析以完善極體診斷。極體在胚胎發(fā)育和合子形成中是非必需的,它不引起胚胎成分的減少,去除極體應該不影響卵子受精和胚胎正常發(fā)育。目前PGD的安全性仍是人們廣泛關注的問題,卵裂球活檢的安全性和可靠性已得到認同并廣泛用于PGD。極體活檢特別是兩步極體活檢是否影響胚胎發(fā)育以及與卵裂球活檢比較是否更安全,國內尚未見報道。一種新型的1.48μm紅外線二極管激光儀(OCTAX-LaserShot)通過光學鏡頭以“非接觸”的方式發(fā)生作用,近年來開始用于PGD,是一種更快捷、更簡便、更安全的活檢輔助工具。本研究通過動物實驗比較不同極體活檢方案對胚胎發(fā)育的影響以及與卵裂球活檢比較評價兩步極體活檢的安全性,以估計對臨床應用的安全性,并確定最佳活檢方案為臨床應用提供理論依據。
[Abstract]:In order to avoid selective abortion caused by prenatal diagnosis such as villi biopsy or amniotic fluid diagnosis, the idea of preimplantation genetic diagnosis of (preimplantation genetic diagnosis, PGD) has been put forward. It has been widely used in genetic screening of couples with high risk of gene or chromosome abnormality. Most of the embryos were genetically analyzed and diagnosed by cleavage biopsy, and the normal embryos without genetic defects were transferred into the uterus to produce healthy offspring. But the rate of chromosomal aneuploidy chimerism is high, which can lead to misdiagnosis. Blastomere biopsy is a highly invasive operation of the embryo itself. In order to avoid the possible effect of cleavage embryo biopsy on embryonic development ability, the idea of first polar body (the first polar body, 1PB) analysis was proposed to predict the genotype of oocytes. Due to chromosome recombination during meiosis, about half of 1PB may be heterozygotes. If the second polar (the second polar body, 2PB was not detected at the same time, the genotypes of a large number of embryos from oocytes diagnosed as heterozygotes after 1PB testing could not be predicted. In order to ensure that the normal egg cells formed after the second meiosis can be detected and selected, 2PB analysis was introduced to improve the diagnosis of polar bodies. Polar body is not necessary in embryo development and zygote formation, it does not cause the decrease of embryo composition, and the removal of polar body should not affect fertilization and normal development of embryo. At present, the safety of PGD is still a widespread concern. The safety and reliability of cleavage biopsy have been recognized and widely used in PGD.. Whether polar body biopsy, especially two-step polar body biopsy, affects embryo development and whether it is safer than cleavage biopsy has not been reported in China. A new type of 1.48 渭 m infrared diode laser (OCTAX-LaserShot) works through optical lens in a "contactless" manner. In recent years, it has been used in PGD, as a faster, simpler and safer biopsy aid. In this study, the effects of different polar body biopsy schemes on embryo development and the safety of two-step polar body biopsy were compared with those of blastomere biopsy in order to estimate the safety of clinical application. The optimal biopsy scheme was determined to provide theoretical basis for clinical application.
【學位授予單位】：鄭州大學
【學位級別】：碩士
【學位授予年份】：2005
【分類號】：R321

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