順德圖書館_染色體多態(tài)性別緊張這些“異?！被菊?/title> <meta name="viewport" content="width=device-width, initial-scale=1,maximum-scale=1, user-scalable=no"> <link rel="stylesheet" href="/Public/Home/2016/css/bootstrap.min.css" /> <link rel="stylesheet" href="/Public/Home/2016/css/top.css" /> <link rel="stylesheet" href="/Public/Home/2016/css/content.css" /> <link rel="stylesheet" href="/Public/Home/2016/css/style.css" /> <link rel="stylesheet" href="/Public/Home/2016/css/bottom.css" /> <link rel="stylesheet" href="/Public/Home/baokan/css/baokan.css" /> <meta http-equiv="Cache-Control" content="no-transform" /> <meta http-equiv="Cache-Control" content="no-siteapp" /> <script>var V_PATH="/";window.onerror=function(){ return true; };</script> </head> <body> <h1><a href="http://vietbeautysupply.com/">欧美va亚洲va在线观看,亚洲日韩高清在线,亚洲欧美日韩久久精品一区,天天躁夜夜躁狠狠中文</a></h1> <div style="position:fixed;left:-9000px;top:-9000px;"><dl id="rv3nz"><thead id="rv3nz"><output id="rv3nz"><label 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href="/home/baokan/baokan.html">首頁(yè)</a> > <a href="/home/article/lists/category/bkwz.html">報(bào)刊文摘</a>> <a href="/home/article/lists/category/jkys.html">健康飲食</a> >染色體多態(tài)性別緊張這些“異?！被菊?/div> <h4 class="text-center" style=" border-bottom: 1px solid #000; padding:10px 0;">染色體多態(tài)性別緊張這些“異常”基本正常</h4> <p class="text-center">加入時(shí)間：2024-09-11 16:46 訪問(wèn)量：770 信息來(lái)源: 家庭醫(yī)學(xué) 2024年14期</p> <div id="wy9mq1h" class="thumbnail"> <p class="MsoNormal"> <span style="font-family:宋體;font-size:10.5000pt;"><span>　　來(lái)生殖中心就診的夫婦都會(huì)被要求做染色體核型檢查。大多數(shù)情況下，大家都會(huì)看懂正常染色體的核型</span><span>46</span><span>．</span><span>XX</span><span>（女性）和</span><span>46</span><span>，</span><span>XY</span><span>（男性）。但有部分患者的染色體報(bào)告結(jié)果顯示“染色體多態(tài)性”，比女口</span><span>1qh+</span><span>、</span><span>9qh+</span><span>、</span><span>15ps+</span><span>、</span><span>22pstk+</span><span>等。面對(duì)這種不是染色體異常，又與正常染色體核型有區(qū)別的結(jié)果，患者往往存在諸多顧慮和擔(dān)憂：“我是否還能正常生育？能不能做試管嬰兒？生出來(lái)的孩子是否正常？會(huì)不會(huì)遺傳給下一代？”今天就跟大家一起聊聊染色體多態(tài)性到底是怎么回事。</span></span><span style="font-family:宋體;font-size:10.5000pt;"></span> </p> <p class="MsoNormal"> <span style="font-family:宋體;font-size:10.5000pt;">什么是染色體</span><span style="font-family:宋體;font-size:10.5000pt;"></span> </p> <p class="MsoNormal"> <span style="font-family:宋體;font-size:10.5000pt;"><span>　　染色體作為遺傳物質(zhì)的載體，由蛋白質(zhì)和</span><span>DNA</span><span>組成。在細(xì)胞分裂過(guò)程中大部分遺傳信息隨著染色體從親代傳遞給子代。人類正常的</span><span>2</span><span>倍體染色體數(shù)為</span><span>46</span><span>條，有</span><span>23</span><span>對(duì)，包括</span><span>22</span><span>對(duì)常染色體和</span><span>2</span><span>條性染色體，</span><span>X</span><span>和</span><span>Y</span><span>。人類女性有</span><span>2</span><span>條</span><span>X</span><span>染色體（</span><span>46</span><span>，</span><span>XX</span><span>），而男性有</span><span>1</span><span>條</span><span>X</span><span>和</span><span>1</span><span>條</span><span>Y</span><span>染色體（</span><span>46</span><span>，</span><span>XY</span><span>）。</span></span><span style="font-family:宋體;font-size:10.5000pt;"></span> </p> <p class="MsoNormal"> <span style="font-family:宋體;font-size:10.5000pt;">　　染色體核型分析就是根據(jù)細(xì)胞分裂中期染色體的形態(tài)特征，利用顯帶技術(shù)來(lái)識(shí)別染色體異常。染色體異常通常指的是染色體畸變，分為數(shù)目異常和結(jié)構(gòu)異常。染色體數(shù)目異常和結(jié)構(gòu)異?？梢甬a(chǎn)前的胎兒畸形、復(fù)發(fā)性流產(chǎn)、智力低下、表型異?；蛘甙l(fā)育異常。此外，還有一種特殊情況，即染色體多態(tài)性。</span><span style="font-family:宋體;font-size:10.5000pt;"></span> </p> <p class="MsoNormal"> <span style="font-family:宋體;font-size:10.5000pt;">　　染色體核型是指一個(gè)細(xì)胞內(nèi)的染色體按照一定的順序排列起來(lái)的圖像，技術(shù)人員的工作之一就是分析圖像中染色體的結(jié)構(gòu)和數(shù)量是否存在異常。</span><span style="font-family:宋體;font-size:10.5000pt;"></span> </p> <p class="MsoNormal"> <span style="font-family:宋體;font-size:10.5000pt;">什么是染色體多態(tài)性</span><span style="font-family:宋體;font-size:10.5000pt;"></span> </p> <p class="MsoNormal"> <span style="font-family:宋體;font-size:10.5000pt;"><span>　　染色體多態(tài)性可以理解為染色體的正常變異。根據(jù)國(guó)際人類細(xì)胞遺傳學(xué)國(guó)際命名體制（</span><span>ISCN</span><span>）的準(zhǔn)確定義：正常健康人群中存在的一些恒定的染色體微小變異，包括染色體片段的大小或染色差異。其長(zhǎng)度的正常變異通常發(fā)生于染色體異染色質(zhì)片段、隨體柄或隨體。從分子水平上看，結(jié)構(gòu)異染色質(zhì)所含</span><span>DNA</span><span>主要是“非編碼”的高度重復(fù)序列，不含有結(jié)構(gòu)基因，沒(méi)有轉(zhuǎn)錄活性，無(wú)特殊功用，所以并不會(huì)對(duì)個(gè)體表型產(chǎn)生直接影響。打個(gè)比方就是，不管是大眼睛小眼睛、高鼻梁低鼻梁，不影響我們看東西，聞氣味，功能是正常的，只是形態(tài)不同。</span></span><span style="font-family:宋體;font-size:10.5000pt;"></span> </p> <p class="MsoNormal"> <span style="font-family:宋體;font-size:10.5000pt;">染色體多態(tài)性的常見(jiàn)核型有哪些</span><span style="font-family:宋體;font-size:10.5000pt;"></span> </p> <p class="MsoNormal"> <span style="font-family:宋體;font-size:10.5000pt;"><span>　　染色體多態(tài)性集中在某些染色體的特定部位，這些部位為富含高度重復(fù)</span><span>DNA</span><span>的異染色體質(zhì)區(qū)（核型里面用</span><span>h</span><span>表示）、隨體柄（核型里面用</span><span>stk</span><span>表示）、隨體（核型里面用</span><span>s</span><span>表示），常見(jiàn)的染色體多態(tài)性主要是異染色質(zhì)區(qū)、隨體柄，以及隨體的長(zhǎng)度、數(shù)目、位置的多態(tài)性。</span></span><span style="font-family:宋體;font-size:10.5000pt;"></span> </p> <p class="MsoNormal"> <span style="font-family:宋體;font-size:10.5000pt;"><span>　　異染色質(zhì)區(qū)長(zhǎng)度的增加和減少常以</span><span>qh+</span><span>和</span><span>qh-</span><span>分別表示某一染色體長(zhǎng)臂異染色質(zhì)區(qū)長(zhǎng)度的增加和減少。常見(jiàn)類型為第</span><span>1</span><span>號(hào)、</span><span>9</span><span>號(hào)、</span><span>16</span><span>號(hào)染色體及</span><span>Y</span><span>染色體；報(bào)告顯示為</span><span>1qh+</span><span>、</span><span>1qh-</span><span>、</span><span>9qh+</span><span>、</span><span>9qh-</span><span>、</span><span>16qh+</span><span>、</span><span>Yqh+</span><span>、</span><span>Yqh-</span><span>等。</span></span><span style="font-family:宋體;font-size:10.5000pt;"></span> </p> <p class="MsoNormal"> <span style="font-family:宋體;font-size:10.5000pt;"><span>　　隨體及隨體柄的變異</span><span>s+</span><span>表示隨體增大；</span><span>stk+</span><span>表示隨體柄長(zhǎng)度增加，</span><span>pss</span><span>表示雙隨體。常見(jiàn)類型為</span><span>D</span><span>組（</span><span>13</span><span>號(hào)、</span><span>14</span><span>號(hào)、</span><span>15</span><span>號(hào)染色體）、</span><span>G</span><span>組（</span><span>21</span><span>號(hào)、</span><span>22</span><span>號(hào)染色體）及</span><span>Y</span><span>染色體；報(bào)告顯示為</span><span>13ps+</span><span>、</span><span>15ps+</span><span>、</span><span>14pstk+</span><span>、</span><span>2lpstk+</span><span>、</span><span>22pstk+</span><span>、</span><span>21pss</span><span>、</span><span>21ps+</span><span>、</span><span>22ps+</span><span>、</span><span>Yqs</span><span>等。</span></span><span style="font-family:宋體;font-size:10.5000pt;"></span> </p> <p class="MsoNormal"> <span style="font-family:宋體;font-size:10.5000pt;"><span>　　染色體特定區(qū)域的倒位常見(jiàn)類型為第</span><span>2</span><span>號(hào)、</span><span>9</span><span>號(hào)染色體；報(bào)告顯示為</span><span>inv </span><span>（</span><span>2</span><span>）（</span><span>p11.2q13</span><span>），</span><span>inv</span><span>（</span><span>9</span><span>）（</span><span>p12q13</span><span>）。需要特別指出的是，上述類型倒位雖然也屬于多態(tài)，但是需要結(jié)合生育史進(jìn)行遺傳咨詢及門診隨訪。</span></span><span style="font-family:宋體;font-size:10.5000pt;"></span> </p> <p class="MsoNormal"> <span style="font-family:宋體;font-size:10.5000pt;">　　上面這些描述是不是看著很復(fù)雜、很暈？其實(shí)不用記住上面的內(nèi)容，只要知道，出現(xiàn)上面那些字母和數(shù)字，就代表你的染色體基本沒(méi)啥大問(wèn)題就對(duì)了。</span><span style="font-family:宋體;font-size:10.5000pt;"></span> </p> <p class="MsoNormal"> <span style="font-family:宋體;font-size:10.5000pt;">關(guān)于染色體多態(tài)性的爭(zhēng)議</span><span style="font-family:宋體;font-size:10.5000pt;"></span> </p> <p class="MsoNormal"> <span style="font-family:宋體;font-size:10.5000pt;">　　有些研究認(rèn)為，染色體多態(tài)性似乎與不良生育史（胎停、流產(chǎn)、畸胎等）有一定關(guān)系。目前的研究大多是探究各種染色體多態(tài)性與不孕不育患者妊娠結(jié)局的關(guān)系，主要監(jiān)測(cè)指標(biāo)是臨床妊娠率、早期流產(chǎn)率、流產(chǎn)再發(fā)風(fēng)險(xiǎn)等。但隨著遺傳學(xué)檢測(cè)技術(shù)的成熟和普及，更主流的觀點(diǎn)認(rèn)為染色體多態(tài)性不會(huì)導(dǎo)致生育力下降，絕大部分都能正常生育健康寶寶。染色體多態(tài)性也許會(huì)在某些未被人類發(fā)現(xiàn)的層面微妙地影響人類的生育。科學(xué)是嚴(yán)謹(jǐn)?shù)模唇?jīng)證實(shí)存在的事情也就不能被徹底否認(rèn)。</span><span style="font-family:宋體;font-size:10.5000pt;"></span> </p> <p class="MsoNormal"> <span style="font-family:宋體;font-size:10.5000pt;">發(fā)現(xiàn)染色體多態(tài)性該怎么辦</span><span style="font-family:宋體;font-size:10.5000pt;"></span> </p> <p class="MsoNormal"> <span style="font-family:宋體;font-size:10.5000pt;"><span>　　多項(xiàng)研究均顯示，染色體多態(tài)性與體外受精一胚胎移植（</span><span>IVF-ET</span><span>）治療結(jié)局（包括胚胎質(zhì)量、種植率、臨床妊娠率、早期流產(chǎn)率、繼續(xù)妊娠率）無(wú)關(guān)，因此目前觀念認(rèn)為染色體多態(tài)性不會(huì)影響懷孕和生育，也不會(huì)影響試管寶寶的結(jié)果。但是針對(duì)那些</span><span>2</span><span>次及以上不明原因的生化妊娠、胎停或流產(chǎn)，甚至有過(guò)不良生育史的家庭，建議優(yōu)先選擇采用胚胎植入前遺傳學(xué)篩查技術(shù)（</span><span>PGS</span><span>，俗稱“第三代試管嬰兒技術(shù)”），目的是提高胚胎著床率，避免有遺傳缺陷的子代出生。</span></span><span style="font-family:宋體;font-size:10.5000pt;"></span> </p> <p class="MsoNormal"> <span style="font-family:宋體;font-size:10.5000pt;">　　除了上述情況之外，如果大家查出染色體多態(tài)性，不必慌張，及時(shí)向遺傳專家咨詢，必要時(shí)聽(tīng)從醫(yī)生建議做好后續(xù)的驗(yàn)證檢查。同時(shí)重視備孕及產(chǎn)前診斷的相關(guān)檢查，從而有效地預(yù)防胎兒出生缺陷，生出健康寶寶。</span><span style="font-family:宋體;font-size:10.5000pt;"></span> </p> </div> <div id="ak1qolq" class="bottom" align="right"> <p><a href="/home/article/detail/id/125724.html">上一條：揭秘“絆倒”老人的“幕后黑手”</a></p> <p><a 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