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健康科普

罕见病与胚胎植入前遗传学诊断技术

作者: 王玮     

足球竞彩网1978NIANSHIJIESHOULISHIGUANYINGERLouis BrownDEDANSHENGHUASHIDAIDIKAIQILERENLEIFUZHUSHENGZHIJISHUDEXINPIANZHANG。SUIZHEFUZHUSHENGZHIJISHULINCHUANGKAIZHANGUIMODERIYIKUODA,YIJIXIBAOJIFENZIYICHUANXUEZHENDUANJISHUDEKUAISUFAZHAN,PEITAIZHIRUQIANYICHUANXUEZHENDUAN(preimplantation genetic diagnosis,PGD)HEZHIRUQIANYICHUANXUESHAICHA(preimplantation genetic screening,PGS)JISHUYINGLAILEKUAISUDEZENGZHANGHEFAZHAN。PGDSHIZAIPEITAIZHECHUANGZHIQIANJIDUIPEIZIHUOPEITAIJINXINGYICHUANWUZHIFENXI,XUANZEMEIYOUYICHUANWUZHIYICHANGDEPEITAIYIZHI。PGSSHIZHIPEITAIZHIRUQIAN,DUIZAOQIPEITAIJINXINGRANSETISHUMUHEJIEGOUYICHANGDEJIANCE,ZHUYAOTONGGUOJIANCEPEITAIDE23DUIRANSETISHUMU、JIEGOU,TONGGUOBIDUILAIFENXIPEITAISHIFOUYOUYICHUANWUZHIYICHANG。

PGD、PGSJISHUFAZHANDAOXIANZAIYIJINGYOUJIEJINBANGESHIJIDELISHILE,1990 NIANDANSHENGLESHIJIEDI 1 LI PGDYINGER, ZHI 2004 NIAN, YIJINGYOUCHAOGUO 1000 GEJING PGDZHENDUANDEZHENGCHANGYINGERCHUSHENG,DAO 2010 NIAN, QUANQIUDAYUEYOU 10 000 GEJING PGD、PGSDEYINGERCHUSHENG。YINCIPGD、PGSZAIQISHIYINGZHENGFANWEINEIYIJINGYINGYONGDEBIJIAOCHENGSHU。

足球竞彩网ZAISHIJIEHANJIANBINGRILAILINZHIJI,PGD、PGSJISHUNENGWEIHANJIANBINGBINGYOUZUOXIESHENMENI?

对罕见病的定义在不同的国家差别很大,根据美国国立卫生院 (NIH)的统计, 目前全球范围内已确认的罕见病病种约 7000种, 占人类疾病的 10%左右。约 80%的罕见病为遗传性疾病, 与基因变异关系密切; 约 50%的罕见病在出生时或儿童期发病; 约 30%的罕见病儿童寿命不超过 5岁。2010年 5月 17 日, 由中华医学会医学遗传学分会在上海组织召开的中国罕见病定义专家研讨会上对罕见病的定义达成如下共识: 患病率 <1/500000,或新生儿发病率 <1/10000的疾病可以称为中国的罕见病。根据此定义, 以中国约 14 亿人口为基数计算, 每种罕见病的患病人数约 2800人。以 NIH 统计的 7000 种罕见病为计算基数, 中国罕见病总患病人数为 1960万。结合最近对中国医疗现状的调查及国内文献报道, 发现中国的罕见病和遗传病种类与美国的有很大差别, 并且有“罕见病不罕见”, 的新认知。

足球竞彩网YUE80%DEHANJIANBINGSHIYOUYICHUANQUEXIANYINQI,QIEJIHUSUOYOUDEDANJIYINYICHUANBINGJUNSHUHANJIANBING。

ZUQIUJINGCAIWANGXIANLAILEJIEYIXIASHENMESHIYICHUANBING?

足球竞彩网YICHUANBINGSHIZHIYOUYUYICHUANWUZHIFASHENGGAIBIANERYINQIDEJIBING;YOUDEZAITAIERQIHUOYICHUSHENGJIUYOUYICHANG,YEKEZAIQITANIANLINGJIEDUANFABING。YICHUANBINGFENLEIXIANGJIANXIATU。RANSETIBINGHUANZHEJUEDADUOSHUZHONGSHENZHILIDIXIA,BANDUOFAJIXING;JIYINBINGHUANZHE,ZEGENJUBUTONGDEJIYINBINGBIAN,KEYIZHISI、ZHICAN,HUOZHISHIQINGDUBINGBIAN。DABUFENYICHUANBINGSHIHANJIANBING。

DANJIYINYICHUANBING:

足球竞彩网SHIYIZHONGXIANGDUIQINGWEIDEYICHUANBING,BUCUNZAIZHIYUZHICANHEZHISIXING。1ZHONGBINGYOU1DUIDENGWEIJIYINQUESHIHUOJIBIAN,FAXIANDANJIYINYICHUANBINGYOUSHANGQIANZHONG,RUXIANTIANRUOSHI、XIESHI、JINSHI、ERLONG、HUCHOU、XIUMANG、SEMANGZHENG、ZAOSHUAIZHENG、XIANTIANXIAOCHUANBING、JINGMAIQUZHANG、QINGGUANGYAN、PINGZU、BINGZHI、LIUZHIZHENG、XUEYOUBING、PIFUBINGQUEBAN、DUOMAOZHENG、YACHIGUOZAOTUOLUOZHENG,DUOFAXINGJIEHE、CHENGGUBUQUANZHENG、 NIUPIXUAN 、GAODANGUCHUNXUEZHENG、DUONANGSHEN、SHENJINGXIANWEILIU、SHIWANGMOMUXIBAOLIU、FEIJIWEISUOZHENG、RUANGUFAYUBUQUAN、SHANGJIANXIACHUI、BAIHUABING、ZHESEXINGGANPIBING、YULINZHENG、YANQIUZHENZHAN、SHIWANGMOSESUBIANXING、KANGWEISHENGSUDGOULOUBINGDENG.........。

DUOJIYINYICHUANBING;:

MEIZHONGBINGYUDUODUIJIYINQUESHIHUOJIBIANYOUGUAN,BINGZHONGBUDUO,DANDUIRENDEWEIHAIXIANGDUIJIAOZHONG。RUJINGSHENBING、DIANXIANBING、JINGSHENFENLIEZHENG、YIYUZHENG、KONGJUZHENG,JIZHULIE、WUNAOER、CHUNLIE、ELIE、DUOFAJIXINGDENG。

RANSETIBING:

RANSETIYICHANGSUOZHIDEYICHUANBING,KEYIFENWEIRANSETISHUMUYICHANGHEJIEGOUYICHANG: LIRU 47, XXY(KESHIZHENG) 、Turner ZONGHEZHENG(45, XO)、MAOJIAOZONGHEZHENG、 LIANGXINGJIXING、TANGSHIZONGHEZHENG(21SANTI)DENGJUNSHIRANSETISHUMUYICHANG; ERXIANGHUYIWEI、 LUOBOXUNYIWEI、 RANSETIDAOWEIDENGJUNSHUYUJIEGOUYICHANG。XIANGHUYIWEISHIZHILIANGTIAORANSETIDUANLIEHOUXIANGHUJIAOHUANWUZHESILIDUANPIANHOUZHONGJIE, RENQUNZHONGFASHENGLVYUEWEI 1/6 000000。LUOSHIYIWEIDUANLIEFASHENGZAILIANGGEJINDUANZHESILIRANSETIZHESICHU, DUANLIEHOULIANGZHANGBEIRANSETIDEZHESILIHUXIANGRONGHEXINGCHENGYIGEYANSHENGRANSETI, FASHENGLVDAYUEWEI 1/1000。YOUYUMEIYOUZHONGYAOYICHUANWUZHIDEQUESHI, XIANGHUYIWEIHELUOSHIYIWEIYOUBEICHENGWEIPINGHENGYIWEI, ZHILI、 BIAOXINGTONGCHANGZHENGCHANG, DANSHIZAISHENGYUSHI, YOUYUCHANSHENGBUPINGHENGDEPEIZIHUIDAOZHISHENGYULIXIAJIANG、 FUFAXINGLIUCHAN、 JIXINGERDENGWENTI。

足球竞彩网JIEXIALAIZUQIUJINGCAIWANGLEJIEYIXIASHENMEYANGDEBINGYOUSHIHEZUOPGD、PGS?

PGDDESHIYINGZHENG

足球竞彩网1、RANSETIYICHANGFUFURENYIFANGHUOSHUANGFANGXIEDAIRANSETIJIEGOUYICHANG,BAOKUOXIANGHUYIWEI、LUOSHIYIWEI、DAOWEI、FUZAYIWEI、ZHIBINGXINGWEIQUESHIHUOWEIZHONGFUDENG。

足球竞彩网2、DANJIYINYICHUANBINGJUYOUSHENGYUCHANGRANSETIXIANXINGYICHUAN、CHANGRANSETIYINXINGYICHUAN、XLIANSUOYINXINGYICHUAN、XLIANSUOXIANXINGYICHUAN、YLIANSUOYICHUANDENGYICHUANBINGZIDAIGAOFENGXIANDEFUFU,QIEJIAZUZHONGDEZHIBINGJIYINTUBIANZHENDUANMINGQUEHUOZHIBINGJIYINLIANSUOBIAOJIMINGQUE。

3、JUYOUYICHUANYIGANXINGDEYANZHONGJIBINGFUFURENYIFANGHUOSHUANGFANGXIEDAIYOUYANZHONGJIBINGDEYICHUANYIGANJIYINDEZHIBINGTUBIAN,RUYICHUANXINGRUXIANAIDEBRCA1、BRCA2ZHIBINGTUBIAN。

足球竞彩网4、RENLEIBAIXIBAOKANGYUAN(human leukocyte antigen,HLA)PEIXINGCENGSHENGYUGUOXUYAOJINXINGGUSUIYIZHIZHILIAODEYANZHONGXUEYEXITONGJIBINGHUANERDEFUFU,KEYITONGGUOPGDXUANZESHENGYUYIGEHEXIANQIANHUANERHLAPEIXINGXIANGTONGDETONGBAO,TONGGUOCONGXINSHENGERQIDAIXUEZHONGCAIJIZAOXUEGANXIBAOJINXINGYIZHI,JIUZHIHUANBINGTONGBAO。

PGSDESHIYINGZHENG

MUQIANPGSKEYINGYONGYUYIXIAJIGEFANGMIAN:

1、NVFANGGAOLING(advanced maternal age,AMA) NVFANGNIANLING38SUIJIYISHANG。

2、BUMINGYUANYINFANFUZIRANLIUCHAN(recurrent miscarriage,RM) FANFUZIRANLIUCHAN2CIJIYISHANG。

3、BUMINGYUANYINFANFUZHONGZHISHIBAI(recurrent implantation failure,RIF) YIZHI3CIJIYISHANGHUOYIZHIGAOPINGFENLUANLIEQIPEITAISHU4~6GEHUOGAOPINGFENNANGPEISHU3GEJIYISHANGJUNSHIBAI。

4、YANZHONGJIJINGZIZHENG

PGDDEJINJIZHENG

YOUYIXIAQINGKUANGZHIYIZHE,BUDESHISHIPGDJISHU:

足球竞彩网1、MUQIANJIYINZHENDUANHUOJIYINDINGWEIBUMINGDEYICHUANXINGJIBING。

2、FEIJIBINGXINGZHUANGDEXUANZE,RUXINGBIE、RONGMAO、SHENGAO、FUSEDENG。

3、QITABUSHIYISHISHIPGDDEQINGKUANG。

PGD、PGSSHISHILIUCHENGZUQIUJINGCAIWANGYONGXIAMIANDETULAIGAOSUDAJIA:

XUYAOSHISHIPGD、PGSJISHUDEHUANYOUQINGANYIXIALIUCHENGJIUZHEN。

足球竞彩网ZONGZHI,PEITAIZHIRUQIANYICHUANXUEZHENDUANJISHUKEYIBANGZHUHANJIANBINGBINGYOUDADATIGAOHUAIYUNJIANKANGTAIERDEKENENGXING,RANGZUQIUJINGCAIWANGXIESHOUBINGJIN,ZHANSHENGHANJIANBING,SHENGYUJIANKANGBAOBAO!

点击量: 16033
编辑: 生殖医学科 郝桂敏
2018-03-25 15:09:41
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