本文選題：生殖遺傳　切入點：遺傳咨詢　出處：《中南大學(xué)》2012年碩士論文　論文類型：學(xué)位論文

【摘要】：遺傳病是由于基因突變或染色體畸變引起的疾病,雖然不一定代代相傳,但一旦患上遺傳病,則往往癥狀非常嚴重。遺傳病是影響人口素質(zhì)的重要因素,也是出生缺陷的主要原因。遺傳病包括染色體病、單基因病、多基因病和線粒體病。眾所周知,計劃生育與優(yōu)生優(yōu)育為我國的基本國策,但因為遺傳病的根本病因在于遺傳物質(zhì)的缺陷,至今尚無糾正有缺陷的致病基因或染色體的有效辦法以及治療方法,所以用適當(dāng)?shù)尼t(yī)療技術(shù)預(yù)防遺傳病患兒的出生,是達到減少甚至杜絕遺傳病發(fā)生的主要途徑。遺傳咨詢和產(chǎn)前診斷成為控制遺傳病發(fā)生的重要手段之一,遺傳病患者除了需要了解自身遺傳病的治療、預(yù)后等方面情況之外,他們更關(guān)心生育方面的風(fēng)險。遺傳咨詢的目的在于讓夫婦被充分告知遺傳病的風(fēng)險,并提供一些有價值的指導(dǎo)性意見和切實可行的措施,讓他們做好生殖方面的選擇：如產(chǎn)前診斷、選擇性人工流產(chǎn)、供精人工授精或供卵體外受精、植入前遺傳學(xué)診斷等。以上每一種選擇涉及相關(guān)的醫(yī)學(xué)倫理原則,既存在著共性,也具有其特殊性。同時不管選擇哪種技術(shù),由于種族、信仰和文化背景的差異,在倫理原則上都存在著一些爭議,有待解決并加以完善。因此,充分的遺傳咨詢、完善的知情同意過程以及尊重個體的自主權(quán)是臨床倫理實施過程中至關(guān)重要的,目前我國尚未頒布在遺傳咨詢和產(chǎn)前診斷工作中的倫理指導(dǎo)細則,為了更好地保護病人的利益,規(guī)范醫(yī)務(wù)人員在遺傳咨詢和產(chǎn)前診斷工作中的醫(yī)療行為,更好地為遺傳患者服務(wù),在我院建立相關(guān)的倫理細則是至關(guān)重要的。
[Abstract]:Hereditary diseases are diseases caused by mutations in genes or chromosomal aberrations. Although they may not be passed down from generation to generation, they are often characterized by very serious symptoms once they are developed. Genetic diseases are an important factor affecting the quality of the population. It is also the main cause of birth defects. Hereditary diseases include chromosome disease, monogenic disease, polygenic disease and mitochondrial disease. As is known to all, family planning and eugenics are the basic national policy of our country. But because the root cause of genetic disease is the defect of genetic material, there is no effective way to correct defective genes or chromosomes and to treat it, so use appropriate medical techniques to prevent the birth of a child with genetic disease. Genetic counseling and prenatal diagnosis have become one of the important means to control the occurrence of genetic diseases. Patients with genetic diseases need to know the treatment and prognosis of their own genetic diseases. They are more concerned about reproductive risks. Genetic counseling is aimed at keeping couples fully informed of the risk of genetic disease and providing valuable guidance and practical measures. They are asked to make reproductive choices such as prenatal diagnosis, selective abortion, donor insemination or in vitro fertilization of donor eggs, preimplantation genetic diagnosis, and so on. At the same time, no matter which technology is chosen, there are some disputes over ethical principles due to differences in race, belief and cultural background, which need to be resolved and perfected. Perfect informed consent process and respect for individual autonomy are very important in the process of clinical ethics implementation. At present, our country has not promulgated the rules of ethics guidance in genetic counseling and prenatal diagnosis, in order to better protect the interests of patients. It is very important to standardize the medical behavior of medical staff in genetic counseling and prenatal diagnosis and to better serve genetic patients.
【學(xué)位授予單位】：中南大學(xué)
【學(xué)位級別】：碩士
【學(xué)位授予年份】：2012
【分類號】：R394;B82-05

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