骞煎厭鐨啔鍟�(w猫n)椤岃垏鍩哄洜璁婄暟鏈夐棞(gu膩n)
杩戞棩锛岀爺绌朵汉鍝＄櫦(f膩)鐝�(xi脿n)锛孠IF3A鍩哄洜鐨勫叐鍊�(g猫)甯歌(ji脿n)璁婄暟澧炲姞浜嗗辜鍏掔毊鑶氬睆闅滃姛鑳藉け瑾�(di脿o)鍜岀櫦(f膩)鐢熺毊鑶氶亷(gu貌)鏁忔€х毊鐐庣殑棰�(f膿ng)闅�(xi菐n)銆傞€欏弽閬�(gu貌)渚�(l谩i)鍙堝彲浠ヨ畵鐠�(hu谩n)澧冩帴瑙告洿瀹规槗瓒婇亷(gu貌)鐨啔灞忛殰锛屽苟鍦ㄤ粬鍊戦暦(zh菐ng)澶у悗寮曠櫦(f膩)椋熺墿閬�(gu貌)鏁忓拰鍝枠銆�
杈涜緵閭ｆ彁鍏掔鐮旂┒鎵€鐨勭瀛�(xu茅)瀹跺皣姝ょ爺绌剁祼(ji茅)鏋滅櫦(f膩)琛ㄥ湪2020骞�8鏈�14鏃ョ殑銆婅嚜鐒堕€氳▕銆嬩笂銆傜涓€浣滆€呮槸Mariana Stevens鍗氬＋锛岄珮绱�(j铆)閫氫俊浣滆€呮槸閱�(y墨)瀛�(xu茅)鍗氬＋銆佸摦鍠樼爺绌堕儴涓讳换Gurjit Khurana Hershey銆�
鐗规噳(y墨ng)鎬х毊鐐�
閫欓爡(xi脿ng)鐮旂┒鐐虹壒鎳�(y墨ng)鎬х毊鐐庣殑閬哄偝鍜屽垎瀛愭(j墨)鍒舵彁渚涗簡鏂扮殑绶氱储銆傜壒鎳�(y墨ng)鎬х毊鐐庢槸涓€绋父瑕�(ji脿n)鐨勭柧?銆傘剴鍗淨鐐烘繒鐤癸級锛屽奖闊�20%鐨勫厭绔�銆傞洊鐒舵繒鐤归€氬父鏈�(hu矛)闅ㄨ憲鍏掔骞撮健鐨勫闀�(zh菐ng)鑰屾秷閫€锛屼絾瑷卞鐨啔灞忛殰鍙楁悕鐨勫厭绔ユ渻(hu矛)鐧�(f膩)灞曟垚鏇村毚(y谩n)閲嶇殑鐤剧梾锛屽寘鎷摦鍠樺拰椋熺墿閬�(gu貌)鏁�銆�
閫欓爡(xi脿ng)鐮旂┒绲�(ji茅)鏋滃彲浠ヤ娇鎴戝€戞洿瀹规槗鍦扮⒑瀹氬摢浜涙偅鏈夋繒鐤圭殑鍏掔鏈€鏈夊彲鑳界櫦(f膩)灞曟垚鍏朵粬閬�(gu貌)鏁忔€х柧鐥呫€傞€欏皣鍏佽ū閲濆皪(du矛)楂樺嵄鍏掔鍋氬嚭閬╃暥(d膩ng)?sh霉)绾愁寠缃樼粸绀佹繁A(y霉)鍜屽叾浠栭爯(y霉)闃叉€ф不鐧�銆傞€欓爡(xi脿ng)鐮旂┒閭勬彁鍑轰簡涓€鍊�(g猫)鏂扮殑娌荤檪鐩(bi膩o)銆�
“椋熺墿閬�(gu貌)鏁忔鍦ㄤ笂鍗�锛屽師鍥犻倓涓嶅畬鍏ㄦ竻妤氥€傞€欓爡(xi脿ng)鐮旂┒鐐轰竴绋柊鑸堢悊璜栨彁渚涗簡璀夋摎(j霉)锛屽嵆鐨啔鍋ュ悍鑸囪偤鍜岃吀閬撳仴搴风殑闂�(gu膩n)绯绘瘮瑷卞浜烘墍鎳风枒鐨勬洿鐐哄瘑鍒囥€�”——Gurjit Khurana Hershey锛岄啱(y墨)瀛�(xu茅)鍗氬＋锛屽摦鍠樼爺绌堕儴涓讳换
鍏╁€�(g猫)寰皬鐨凷NP鍦ㄧ毊鑶氬仴搴蜂腑璧疯憲閲嶈浣滅敤
鍠牳鑻烽吀澶氭厠(t脿i)鎬э紙SNP锛夋槸DNA搴忓垪涓父瑕�(ji脿n)鐨勯伜鍌宠畩鐣�銆傚湪閫欓爡(xi脿ng)鐮旂┒涓紝鐮旂┒浜哄摗鍦↘IF3A鍩哄洜涓櫦(f膩)鐝�(xi脿n)浜嗗叐鍊�(g猫)SNP锛岄€氶亷(gu貌)鍦ㄥ厭绔ヨ韩涓婄殑涓€绯诲垪瀵�(sh铆)椹�(y脿n)浠ュ強鍦ㄥ皬榧犺韩涓婄殑鑷ㄥ簥鍓嶇爺绌跺緱鍒拌瓑瀵�(sh铆)锛岄€欏叐鍊�(g猫)SNP鍦ㄦ繒鐤圭殑鐧�(f膩)鐢熶腑璧疯憲鐩存帴浣滅敤銆�
閫欎簺SNP锛坮s11740584鍜宺s2299007锛夎垏鐨啔澶辨按澧炲姞銆佺毊鑶氬共鐕ュ拰鐗规噳(y墨ng)鎬х毊鐐庣殑鐗瑰緛鎬ф悕瀹虫湁闂�(gu膩n)銆傛脯(c猫)閲忛€欑ó椤炲瀷鐨勫け姘寸巼鏄⒑瀹氬厭绔ユ繒鐤圭殑鍤�(y谩n)閲嶇▼搴︾殑涓€绋柟娉曘€�
KIF3A鍩哄洜鐨勬纰哄姛鑳藉緢閲嶈锛屽洜?y脿n)妯楅紱妞寢?x矛)鑳炲舰鎴愬垵绱�(j铆)绾栨瘺锛岀簴姣涙槸绱�(x矛)鑳炶〃闈㈢殑涓€绋祼(ji茅)妲�(g貌u)锛屽厖鐣�(d膩ng)澶╃窔锛屾帴鏀朵締(l谩i)鑷叾浠栫窗(x矛)鑳炵殑閲嶈淇¤櫉(h脿o)淇℃伅銆傜敱杈涜緵閭ｆ彁鍏掔鍜屽叾浠栨(j墨)妲�(g貌u)鐨勫皥瀹堕牁(l菒ng)灏�(d菐o)鐨勫厛鍓嶇爺绌跺凡缍�(j墨ng)琛ㄦ槑锛岃偤绲勭箶涓殑KIF3A鍔熻兘涓嶆甯告渻(hu矛)灏�(d菐o)鑷村摦鍠�銆傚悓妯�锛岃吀閬撶祫绻斾腑鍚屼竴鍩哄洜鐨勬晠闅滀篃鏈�(hu矛)澧炲姞椋熺墿閬�(gu貌)鏁忕殑棰�(f膿ng)闅�(xi菐n)銆�
鐝�(xi脿n)鍦紝閫欓爡(xi脿ng)鐮旂┒鏈夊姪浜庡皣閫欏叐绋亷(gu貌)鏁忛ⅷ(f膿ng)闅�(xi菐n)鑸囧彈鎼嶇殑鐨啔灞忛殰鑱�(li谩n)绯昏捣渚�(l谩i)锛屼娇鏇村鐨勯亷(gu貌)鏁忚Ц鐧�(f膩)鐗╄唱(zh矛)閫�(j矛n)鍏ユ垜鍊戠殑楂斿収(n猫i)锛屼績浣垮厤鐤郴绲�(t菕ng)閬�(gu貌)搴﹀弽鎳�(y墨ng)銆�
“鎴戝€戞鍦ㄥ姫鍔涙洿濂藉湴浜嗚В鐨啔銆佽吀閬撳拰鑲洪儴鍋ュ悍涔嬮枔鐨勮伅(li谩n)绯�銆備簨瀵�(sh铆)涓�锛屾垜鍊戝緱鍒颁簡缇庡湅(gu贸)鍦�(gu贸)绔嬭(w猫i)鐢熺爺绌堕櫌鐨勬挜娆句締(l谩i)閫�(j矛n)涓€姝ョ爺绌堕€欑ó鑱�(li谩n)绯�銆�
绡╅伕瑭﹂(y脿n)姝ｅ湪闁�(k膩i)鐧�(f膩)涓�
杈涜緵閭ｆ彁鍏掔鐮旂┒鎵€鐨勭爺绌跺皬绲勫凡缍�(j墨ng)闁�(k膩i)濮嬪皨鎵炬湁鍙兘鍦ㄦ煇涓€澶╂湁鍔╀簬鎭㈠京(f霉)KIF3A鍩哄洜鍔熻兘鐨勮棩鐗�銆備絾鏍规摎(j霉)閫欓爡(xi脿ng)鐮旂┒锛屼笅涓€鍊�(g猫)绗竴姝ュ皣鏄辜绾�(x霉)灏嬫壘蹇€熺閬歌│椹�(y脿n)銆�
銆婅嚜鐒堕€氳▕銆嬮洔蹇楃殑閫欓爡(xi脿ng)鏂扮爺绌跺缓绔嬪湪杈涜緵閭ｆ彁鍏掔绉戝(xu茅)瀹朵粖骞存棭浜涙檪(sh铆)鍊欑櫦(f膩)琛ㄧ殑鍙﹀鍏╅爡(xi脿ng)鐮旂┒鐨勭櫦(f膩)鐝�(xi脿n)涔嬩笂銆�
?浠婂勾2鏈堬紝銆婇亷(gu貌)鏁忚垏鑷ㄥ簥鍏嶇柅瀛�(xu茅)闆滃織銆嬩笂鐨勪竴闋�(xi脿ng)鐮旂┒鍫�(b脿o)鍛婄ū锛岃垏鐖舵瘝鎮ｆ湁閬�(gu貌)鏁忔€х柧鐥呯浉姣旓紝鐗规噳(y墨ng)鎬х毊鐐庡紩璧风殑閬�(gu貌)鏁忛ⅷ(f膿ng)闅�(xi菐n)鏇撮珮銆�
?浠婂勾4鏈�锛屽悓涓€闆滃織涓婄殑涓€闋�(xi脿ng)鐮旂┒璀夋槑浜嗕娇鐢ㄧ劇(w煤)鐥涜啝甯跺墲闆綔鐐轰竴绋瘮鐨啔娲绘鏇村叿渚靛叆鎬х殑宸ュ叿渚�(l谩i)鏀堕泦鏈夐棞(gu膩n)鐨啔鍋ュ悍鐨勬暩(sh霉)鎿�(j霉)鐨勫児(ji脿)鍊�銆傞€氶亷(gu貌)閲忓寲KIF3A鐨勮〃閬�(d谩)渚�(l谩i)闋�(y霉)娓�(c猫)鐤剧梾棰�(f膿ng)闅�(xi菐n)銆�
杈涜緵閭ｆ彁鍦板崁(q奴)鐨�600鍚嶆偅鏈夌壒鎳�(y墨ng)鎬х毊鐐庡厭绔ユ槸缇庡湅(gu贸)鍚岄鐮旂┒涓殑绗竴鍊�(g猫)缇ら珨锛屼粬鍊戝皣琚窡韫�5骞�锛屼互鐩存帴瑭�(p铆ng)浼癒IF3A鍩哄洜璁婄暟鍜岀毊鑶氳〃閬�(d谩)闋�(y霉)娓�(c猫)鐤剧梾棰�(f膿ng)闅�(xi菐n)鐨勮兘鍔涖€�
|
灏堝灏忚布澹�