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罕有病与胚胎植入前遗传学诊断手艺

作者:王玮     

1978niantianxiashoulishiguanyingerlouis browndejiangshenghuashiqidikaiqilerenleizanzhushengzhishouyidexinpianzhang。genzhezanzhushengzhishouyilinchuangzhankaiguimoderiqukuozhan,hexibaojifenziyichuanxuezhenduanshouyidejisuchengzhang,peitaizhiruqianyichuanxuezhenduan(preimplantation genetic diagnosis,pgd)hezhiruqianyichuanxueshaicha(preimplantation genetic screening,pgs)shouyiyinglailejisudezengjiahechengzhang。pgdshizaipeitaizhechuangzhiqianjiduipeizihuopeitaitingzhiyichuanwuzichanfa,tiaoxuanbuyichuanwuzifeichangdepeitaiyizhi。pgsshizhipeitaizhiruqian,duichuqipeitaitingzhiransetishulianghebujufeichangdejiance,shouyaojingyouguochengjiancepeitaide23duiransetishuliang、buju,jingyouguochengbiduilaichanfapeitaishibushiyouyichuanwuzifeichang。

pgd、pgsshouyichengzhangdaocikeyiyoukaojinbangeshijidehanqingle,1990 nianjiangshengletianxiadi 1 li pgdyinger, zhi 2004 nian, yiyoukuayue 1000 gejing pgdzhenduandeyibanyingerdansheng,dao 2010 nian, huanqiuyuemoyou 10 000 gejing pgd、pgsdeyingerdansheng。shiyipgd、pgszaiqishunyingzhengguimoneiyiliyongdebinichengshu。

zaitianxiahanyoubingridaolinzhiji,pgd、pgsshouyinengweihanyoubingbingyouzuoxieshenmeni?

对罕有病的界说在差别的国度差别很大,按照美国国立卫生院 (NIH)的统计, 今朝环球规模内已确认的罕有病病种约 7000种, 占人类疾病的 10%摆布。约 80%的罕有病为遗传性疾病, 与基因变异干系紧密亲密; 约 50%的罕有病在诞生时或儿童期病发; 约 30%的罕有病儿童寿命不跨越 5岁。2010年 5月 17 日, 由中华医学会医学遗传学分会在上海构造召开的中国罕有病界说专家钻研会上对罕有病的界说告竣以下共鸣: 得病率 <1/500000,或重生儿病发率 <1/10000的疾病能够称为中国的罕有病。按照此界说, 以中国约 14 亿生齿为基数计较, 每种罕有病的得病人数约 2800人。以 NIH 统计的 7000 种罕有病为计较基数, 中国罕有病总得病人数为 1960万。连系比来对中国医疗近况的查询拜访及国际文献报道, 发明中国的罕有病和遗传病品种与美国的有很大差别, 并且有“罕有病不罕有”, 的新认知。

yue80%dehanyoubingshiyouyichuanquedianyinfa,qiejijinyiqiededanjiyinyichuanbingjunshuhanyoubing。

zanmenxianlailinghuiyixiashenmeshiyichuanbing?

yichuanbingshizhiyinweiyichuanwuzifashengzhuanbianeryinfadejibing;youdezaitaierqihuoyidanshengjiuyoufeichang,yekezaiqiyuchunqiujieduanbingfa。yichuanbingfenleixiangjianxiatu。ransetibinghuanzhejuedadadoubishengzhilidixia,banduofajixing;jiyinbinghuanzhe,zeanzhaochabiedejiyinbingbian,nenggouzhisi、zhican,huozhishiqingdubingbian。dajubuyichuanbingshihanyoubing。

danjiyinyichuanbing:

shiyizhongjueduiqingxideyichuanbing,bucunzaizhiyuzhicanhezhisixing。1zhongbingyou1pingdengweijiyinqueshihuojibian,famingdanjiyinyichuanbingyoushangqianzhong,ruhoutianruoshi、xieshi、yuanshi、erlong、yechou、xiumang、semangzheng、zaoshuaizheng、houtianxiaochuanbing、jingmaiquzhang、qingguangyan、pingzu、bingzhi、liuzhizheng、xueyoubing、pifubingbandian、duomaozheng、yachiguozaolingluozheng,duofaxingjiehe、chenggubuquanzheng、 niupixuan 、gaodanguchunxuezheng、duonangshen、shenjingxianweiliu、shiwangmomuxibaoliu、feijiweisuozheng、ruangufayubuquan、shangjianxiachui、baihuabing、zhesexingganpibing、yulinzheng、yanqiuzhenzhan、shiwangmosesubianxing、kangweishengsudgouloubingdeng.........。

duojiyinyichuanbing;:

meizhongbingyuduoduijiyinqueshihuojibianyouguan,bingzhongweiji,danduirendeweixianjueduijiaozhong。rujinglibing、dianxianbing、jingligeliezheng、fanmenzheng、jinghaizheng,jizhulie、wunaoer、chunlie、elie、duofajixingdeng。

ransetibing:

ransetifeichangerzhideyichuanbing,nenggoufenweiransetishuliangfeichanghebujufeichang: bifang 47, xxy(keshizheng) 、turner zonghezheng(45, xo)、maojiaozonghezheng、 liangxingjixing、tangshizonghezheng(21santi)dengjunshiransetishuliangfeichang; erbiciyiwei、 luoboxunyiwei、 ransetidaoweidengjunshuyubujufeichang。biciyiweishizhiliangtiaoransetiduanliehoubicihuhuanwuzhesiliduanpianhouzhongjie, renqunzhongfashenglvyuewei 1/6 000000。luoshiyiweiduanliefashengzailianggejinduanzhesiliransetizhesichu, duanliehouliangzhangbeiransetidezhesilibicironghuigouchengyigeyanshengranseti, fashenglvyuemowei 1/1000。yinweibuzhuyaoyichuanwuzidequeshi, biciyiweiheluoshiyiweiyoubeichengweijunhengyiwei, zhili、 biaoxingfanshiyiban, keshizaishengyangshi, yinweifashengbujunhengdepeizihuizhishishengyanglijiangluo、 fufaxingliuchan、 jixingerdengtimu。

jieshangquzanmenlinghuiyixiashenmeyangdebingyouheshizuopgd、pgs?

pgddeshunyingzheng

1、ransetifeichangjiaourenyifanghuoliangbianzhaoguransetibujufeichang,baohanbiciyiwei、luoshiyiwei、daowei、pangzayiwei、zhibingxingweiqueshihuoweipinpindeng。

2、danjiyinyichuanbingjubeishengyangchangransetixianxingyichuan、changransetiyinxingyichuan、xliansuoyinxingyichuan、xliansuoxianxingyichuan、yliansuoyichuandengyichuanbingzidaigaoweixiandejiaou,qiejiashuzhongdezhibingjiyinjianbianzhenduanmingbaihuozhibingjiyinliansuobiaojimingbai。

3、jubeiyichuanyilixingdeyanjunjibingjiaourenyifanghuoliangbianzhaoguyouyanjunjibingdeyichuanyiganjiyindezhibingjianbian,ruyichuanxingruxianaidebrca1、brca2zhibingjianbian。

4、renleibaixibaokangyuan(human leukocyte antigen,hla)peixingcengshengyangguoxuyaotingzhigusuiyizhiyizhideyanjunxueyetixijibinghuanerdejiaou,nenggoujingyouguochengpgdtiaoxuanshengyangyigehexianqianhuanerhlapeixingbuyidetongbao,jingyouguochengcongzhongshengerqidaixuezhongshouluozaoxueganxibaotingzhiyizhi,jiuzhidebingtongbao。

pgsdeshunyingzheng

jinchaopgskeliyongyuyixiajigefangmian:

1、nvfanggaoling(advanced maternal age,ama) nvfangchunqiu38suijiyishang。

2、bumingyuanyoupinpintianranliuchan(recurrent miscarriage,rm) pinpintianranliuchan2cijiyishang。

3、bumingyuanyoupinpinshizhishili(recurrent implantation failure,rif) yizhi3cijiyishanghuoyizhigaopingfenluanlieqipeitaishu4~6gehuogaopingfennangpeishu3gejiyishangjunshili。

4、yanjunjijingzizheng

pgddejihuizheng

youyixiahuanjingzhiyizhe,budeshixingpgdshouyi:

1、jinchaojiyinzhenduanhuojiyindingweibumingdeyichuanxingjibing。

2、feijibingxingzhuangdetiaoxuan,ruxingbie、mianmao、shengao、fusedeng。

3、qiyubushiheshixingpgddehuanjing。

pgd、pgsshixingliuchengzanmenyongshangmiandetulaigaozhidashi:

xuyaoshixingpgd、pgsshouyidehuanyouqinganyixiajianchengjiuzhi。

zongzhi,peitaizhiruqianyichuanxuezhenduanshouyinenggouzanzhuhanyoubingbingyoudadajinbuyoushenankangtaierdenenggouxing,rangzanmenlianmeibingjin,kefuhanyoubing,shengyangankangbaobao!

点击量:29826
编辑:生殖医学科 郝桂敏
2019-03-25 15:09:41
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