本文選題：染色體易位 + 精子質(zhì)量��； 參考：《中國醫(yī)科大學(xué)》2006年碩士論文

【摘要】：前言 近年來,人類精子質(zhì)量的快速下降正日益引起人們的關(guān)注,這不僅成為男性不育的又一重要病因,還可導(dǎo)致出生缺陷的比率升高。雖然輔助生殖技術(shù)可以幫助低生育能力者獲得自己的后代,但是已有證據(jù)證明,卵泡漿內(nèi)單精子注射(Intracytoplasmic sperm injection,ICSI)可將遺傳缺陷傳遞給下一代,從而影響人口的優(yōu)生優(yōu)育。因此,研究精子發(fā)生的遺傳學(xué)規(guī)律,評估精子的質(zhì)量,并且對輔助受孕者進行植入前遺傳學(xué)診斷(PGD Preimplantation Genertic Diagnosis)就顯得尤其重要。 既往對精子質(zhì)量的評價主要依靠顯微鏡下對精子細胞形態(tài)學(xué)進行觀察所得出的數(shù)據(jù)(如精液密度、活率、形態(tài)等)。隨著分子生物學(xué)的發(fā)展,越來越多的研究者開始對精子發(fā)生機制的研究,盡管目前這一機制尚未闡明,但人們已經(jīng)發(fā)現(xiàn)了某些遺傳缺陷,如基因突變或染色體異常等,與無精癥和嚴重少精癥的發(fā)生密切相關(guān)。其中研究最為詳細的是Y染色體無精子因子AZF(azoospermia factor)區(qū)域的微缺失,常見的大Y染色體以及性染色體非整倍性(Klinefelter綜合征)等。然而,目前對于導(dǎo)致無精癥、少精癥或習(xí)慣性流產(chǎn)的常染色體間相互易位的機制研究尚少。t(11;22)(q23;q11)[以下簡稱t(11;22)]易位是最為常見的非羅伯遜染色體易位。2001年,Kurahashi與Emanuel意外發(fā)現(xiàn),t(11;22)易位的連接片段在精子標本中廣泛存在且具有非常高的發(fā)生率(1.24-9.46×10~5),并且該易位是由兩個染色體上各自一段對稱的回文序列介導(dǎo)的。2002年,隨著整個Y染色體測序的完成,研究者還發(fā)現(xiàn)部分AZF區(qū)域的微缺失斷裂點位于回文序列中。提示回文序列在基因組中廣泛存在,并可能導(dǎo)致基因組不穩(wěn)定性,其介導(dǎo)的染色體易位是一種較為常見的染色體畸變機理。為了進一步了解回文序列介導(dǎo)的染色體易位發(fā)生規(guī)律及其對精子質(zhì)量產(chǎn)生的影響,我們對28例少精子癥與32例正常男性志愿者精液標本進行了研究。本實驗中,利用巢式
[Abstract]:Preface In recent years, the rapid decline in the quality of human sperm is attracting more and more attention, which not only becomes another important cause of male infertility, but also leads to an increase in the rate of birth defects. Although assisted reproductive technology can help people with low fertility to obtain their own offspring, it has been shown that intracytoplasmic sperm injection (ICSI) can transfer genetic defects to the next generation, thus affecting the population's fertility. Therefore, it is very important to study the genetic law of spermatogenesis, evaluate the quality of spermatozoa, and make a preimplantation genetic diagnosis of PGD Preimplantation Genertic diagnosis. In the past, the evaluation of sperm quality mainly depended on the observation of sperm cell morphology under microscope (such as semen density, viability, morphology, etc.) With the development of molecular biology, more and more researchers have begun to study the mechanism of spermatogenesis. Although this mechanism has not been clarified, some genetic defects, such as gene mutation or chromosome abnormality, have been discovered. It is closely related to the occurrence of azoospermia and severe oligozoospermia. The microdeletions in the azoospermia factor AZF(azoospermia factor region of Y chromosome, the common large Y chromosome and sex chromosome aneuploidy Klinefelter syndrome were studied in detail. However, in the present case of azoospermia, The mechanism of autosomal transposition between autosomes in oligozoospermia or habitual abortion is less than that of Q23Q11). The translocation of non-Robertson chromosomes is the most common. It is widely present and has a very high incidence rate of 1.24-9.46 脳 10 ~ (5) and the translocation is mediated by a symmetrical palindromic sequence on each of the two chromosomes. With the completion of the whole Y chromosome sequencing, the researchers also found that the microdeletion breakpoints of some AZF regions were located in palindromes. It is suggested that palindromes exist widely in the genome and may lead to genomic instability. The chromosomal translocation mediated by palindromes is a common mechanism of chromosome aberration. In order to further understand the regularity of chromosome translocation mediated by palindromes and its effect on sperm quality, we studied the semen samples of 28 oligozoospermia and 32 normal male volunteers. In this experiment, nesting is used
【學(xué)位授予單位】：中國醫(yī)科大學(xué)
【學(xué)位級別】：碩士
【學(xué)位授予年份】：2006
【分類號】：R321

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