Abyev`K Abul Kalam Azad, MBBS; PhD (Human Genetics) I›UvwiI K¨vÝvi BÝwUwUDU A¨vc−vBW gwjKzjvi As‡KvjwR wcÖ‡Ým gvMv©‡iU nmwcUvj 7g Zjv, iyg b¤i Ñ 7-125 610 BDwbfvwm©wU G‡fby¨ Ui‡›Uv, I›UvwiI, Gg5wR 2Gg9 K¨vbvWv

Ontario Cancer Institute Applied Molecular Oncology Princess Margaret Hospital 7th Floor, Room no: 7-125 610 University Avenue Toronto, Ontario, M5G 2M9 Canada

†deªyqvwi 2009 February 2009

G KvR BD‡iv‡Rb‡U÷ KZ©„K mgw_©Z hv BD‡ivwcqvb BDwbqb Ñ Gdwc6 mgw_©Z †bUIqvK© Ae G·wm‡jÝ Ñ †hvMv‡hv‡Mi b¤i 512148

Bjvm‡÷ªkb: †i‡eKv †R †KÈ

www.rebeccajkent.com rebecca@rebeccajkent.com

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MvBR GÛ †m›U Ugvm nvmcvZvj, jÛb, hy³ivR¨ KZ©„K cÖ —yZK…Z wjd‡jU †_‡K ms‡¶wcZ|

G· wjsKW Bb‡nwi‡UÝ [G· m¤ú„³ `vqfvM]

†ivMx‡`i ÁvZe¨

G· wjsKW Bb‡nwi‡UÝ [G· m¤ú„³ `vqfvM] wb‡Pi Z_¨mg~n †_‡K G· m¤ú„³ `vqfvM Kx Ges Kxfv‡e G· wjsKW KwÛkb [G· m¤ú„³ ˆewkó] Rb¥m~‡Zª cÖvß nq Zv Rvbv hv‡e| cÖ_‡g wRb I †KªvgRg m¤ú‡K© †R‡b wb‡j wi‡mwmf Bb‡nwi‡UÝ [cÖ”Qbœ `vqfvM] eyS‡Z myweav n‡e| wRb I †KªvgRg Avgv‡`i †`n j¶ j¶ †mj ev †Kvl Øviv MwVZ| cÖvq cÖwZwU †Kv‡li g‡a¨ i‡q‡Q wR‡bi GKwU c~Y© †mU| Avgv‡`i nvRvi nvRvi wRb i‡q‡Q| GB wRbmg~‡ni g‡a¨ _v‡K GK My”Q wb‡ ©k hv Avgv‡`i †e‡o DV‡Z I Avgv‡`i kixi‡K Zvi KvR mwVKfv‡e Ki‡Z mvnvh¨ K‡i| Avgv‡`i A‡bK we‡klZ¡‡K GB wRb wbqš—ªb K‡i, †hgb, †Pv‡Li is, i‡³i MÖyc I aiY, ev D”PZv| myZvi b¨vq GK ai‡Yi AeKvVv‡gvi g‡a¨ wRb _v‡K hv‡K †KªvgRg ejv nq| mvaviYZ Avgv‡`i kix‡ii cÖwZwU †Kv‡l 46Uv K‡i †KªvgRg _v‡K| DËivwa -Kvim~‡Zª 23Uv wcZvi KvQ †_‡K Avi 23Uv gvZvi KvQ †_‡K Avgiv GB †KªvgRgMy‡jv †c‡q _vwK, ZvB Avgv‡`i 23Uv †KªvgR‡gi `ywU †mU ev 23 †Rvov †KªvgRg _v‡K| Avi †h‡nZz †KªvgRgMy‡jv wRb Øviv MwVZ †m‡nZz Avgiv wR‡biI `ywU Kwc gvZv I wcZvi KvQ †_‡K DËivwaKvim~‡Zª †c‡q hvB| G Kvi‡YB KLbI KLbI Avgv‡`i A‡bK ˆewkó gvZv ev wcZvi g‡Zv n‡q _v‡K| †KªvgRgmg~n ev Ab¨ A‡_© wRbmg~n GK cÖKvi ivmvqwbK `ªe¨ Øviv MwVZ hv‡K Avgiv wWGbG ewj|

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G· m¤ú„³ ˆewkó m¤úwK©Z GwU GKwU msw¶ß MvBW| AviI Z_¨ cvIqvi Rb¨: Aidv‡bU wd« I‡qe mvBU www.orpha.net †_‡K A¯vfvweK †ivM-e¨vwa, wPwKrmvi Rb¨ cix¶v-wbix¶v I Ilya-cZª wel‡q Ges mviv BD‡iv‡c Ab¨vb¨ wjsK m¤ú‡K© Avcwb AviI we —vwiZ Rvb‡Z cvi‡eb| BD‡iv‡Rb‡U÷ wd« I‡qe mvBU www.eurogentest.org †_‡K †R‡bwUK †U÷ Ges BD‡iv‡c Ab¨vb¨ wjsK m¤ú‡K© Avcwb AviI we —vwiZ Rvb‡Z cvi‡eb|

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mv‡_ †hvMv‡hvM Kiv Kómva¨ we‡ePbv K‡ib| †R‡bwUK we‡klÁMY G wel‡q h‡_ó cwigvb AwfÁ Ges Zvuiv Avcbv‡K G wel‡q mvnvh¨ Ki‡Z cv‡ib| g‡b ivL‡eb

• bvix evnKM‡Yi 50% m¤¢vebv _v‡K Zvu‡`i cwiewZ©Z wRb Zvu‡`i mš—vb‡`i gv‡S mÂvwjZ Kivi| GKwU cyZª mš—vb hw` GKwU cwiewZ©Z wRb Zvi gv-Gi wbKU †_‡K jvf K‡i _v‡K Z‡e †m GZ`msKªvš— ˆewkó Øviv AvKªvš— nq| GKwU Kb¨v mš—vb hw` GKwU cwiewZ©Z wRb Zvi gv‡qi KvQ †_‡K jvf K‡i _v‡K Z‡e †m Zvi gv‡qi g‡Zv evnK n‡e|

• GKRb cyiyl hvi G· m¤ú„³ cÖ”Qbœ ˆewkó Av‡Q wZwb GKwU cwiewZ©Z

wRb Zvui Kb¨v‡K w`‡Z cvi‡eb d‡j †m GKRb evnK n‡e| Aek¨ Zvui hw` G· m¤ú„³ cÖKU ˆewkó _v‡K Z‡e Zvi Kb¨v AvKªvš— n‡e| GKRb cyiyl Zvui cwiewZ©Z wRb KLbI Zvui cyZª‡K w`‡Z cv‡ib bv|

• cwiewZ©Z wRb †givgZ Kiv hvq bv Ñ GwU mvivRxeb enb Ki‡Z nq|

• cwiewZ©Z wRb A‡b¨i KvQ †_‡K m•KªwgZ n‡Z cv‡i bv|

D`vniY¯i~c, Zvuiv B‡”Q Ki‡j i³ `vbI Ki‡Z cv‡ib|

• A‡b‡K cwiev‡i wRbNwUZ ˆewkó _vKvi Rb¨ wb‡R‡K Acivax g‡b K‡ib| GwU g‡b ivLv Riywi †h, GwU Kv‡iv K…ZKg© bq, Ges †KDB B‡”Q K‡i GwU Ki‡Z cv‡ib bv|

10 Qwe 1: wRb, †KªvgRg I wWGbG bvix I cyiyl Df‡qi 1 †_‡K 22 b¤i ch©š— †KªvgRgMywj †`L‡Z cÖvq GKB iKg (Qwe 2 †`Lyb) Ñ GMywj‡K A‡Uvmg ejv nq| 23Zg †Rvov bvix I cyiy‡li wfbœ Ñ GMywj‡K wj•M wbav©iK †KªvgRg ev †m· †KªvgRg ejv nq| `yai‡Yi †m· †KªvgR‡gi GKwU‡K G· †KªvgRg I Ab¨wU‡K IqvB †KªvgRg ejv nq| mvaviYZ †g‡q‡`i †m· †KªvgR‡gi †Rvov‡Z `ywU G· †KªvgRg (XX) _v‡K| GKwU †g‡q Zvi gvZvi KvQ †_‡K GKwU G· †KªvgRg I wcZvi KvQ †_‡K GKwU G· †KªvgRg †c‡q _v‡K| mvaviYZ cyiy‡li †m· †KªvgR‡gi †Rvov‡Z GKwU G· †KªvgRg I GKwU IqvB †KªvgRg (XY) _v‡K| GKwU cyiyl Zvi gvZvi KvQ †_‡K GKwU G· †KªvgRg I wcZvi KvQ †_‡K GKwU IqvB †KªvgRg †c‡q _v‡K| Qwe 2 Zvn‡j GKwU cyiy‡li †KªvgRg †`Lv‡”Q KviY GLv‡b †k‡li †Rvov‡Z GKwU G· I GKwU IqvB (XY) †KªvgRg Av‡Q|

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Qwe 2: gv‡ci Kªgvbymv‡i 23 †Rvov †KªvgRg; †KªvgRg 1 mePvB‡Z eo| †k‡li `ywU wj•M wbav©iK †KªvgRg ev †m· †KªvgRg| KLbI KLbI GKwU wR‡bi Kwc‡Z wKQz cwieZ©b [wgD‡Ukb/weKvi] †`Lv hvq hv Zv‡K mwVKfv‡e KvR Ki‡Z evav cÖ`vb K‡i| GB cwieZ©b †R‡bwUK KwÛk‡bi [wRbNwUZ ˆewk‡ói] Rb¥ w`‡Z cv‡i KviY Zv ZLb kixi‡K mwVK wb‡`©k cÖ`vb Ki‡Z e¨_© nq| G· †KªvgR‡g cwieZ©‡bi Kvi‡Y GKwU G· m¤ú„³ ˆewkó m„wó n‡q _v‡K| G· m¤ú„³ cÖ”Qbœ `vqfvM Kx? G· †KªvgR‡g A‡bK wRb _v‡K †hMy‡jv kix‡ii e„w™a I cwiùzU‡bi Rb¨ Riywi| IqvB †KªvgRg AvKv‡i A‡bK †QvU ZvB Zv‡Z wRbI Kg _v‡K| bvix‡`i y‡Uv G· †KªvgRg (G·G·) _v‡K, ZvB Zv‡`i GKwU G· †KªvgR‡gi †Kv‡bv wR‡b hw` †Kv‡bv cwieZ©b _v‡K Z‡e ¯vfvweK G·

4 †Q‡jwU hw` cwiev‡ii cÖ_g m`m¨ nq hvi ˆewkó Av‡Q? KLbI KLbI GKwU mš—vb cwiev‡i cÖ_g G· m¤úwK©Z wRbmsKªvš— ˆewkó wb‡q R‡b¥‡Q| GgbwU nq hLb †m cÖ_gev‡ii g‡Zv wW¤vYy ev kyKªvYy †_‡K GKwU bZzb cwiewZ©Z wRb cÖvß nq| hLb Ggb nq ZLb wkkywUi gvZv-wcZvi †KDB evnK bb| H gvZv-wcZvi Ab¨ mš—v‡bi GKB ˆewkó wb‡q Rb¥MÖnY Kivi m¤¢vebv ¶xY| Z‡e AvKªvš— beRvZK, hvi GLb GKwU cwiewZ©Z wRb Av‡Q, †m Zv Zvi mš—vb‡`i gv‡S cÖevwnZ Ki‡Z cvi‡e| evnK welqK cix¶v Ges Mf©Kvjxb cix¶v G· m¤ú„³ wRbNwUZ ˆewkó Av‡Q Ggb cwiev‡ii m`m¨‡`i Rb¨ bvbv ai‡bi cQ‡›`i AeKvk Av‡Q| evnK welqK cix¶v K‡i bvixiv †R‡b wb‡Z cv‡ib Zvuiv cwiewZ©Z wR‡bi evnK wK bv| G †U÷-Gi djvdj mš—vb †bIqvi wm™av‡š—i Rb¨ Kvh©Kwi| wKQz G· m¤ú„³ wRbNwUZ ˆewk‡ói Rb¨ Mf©Kvjxb cix¶v m¤¢e hv †_‡K Rvbv hv‡e †h M‡f©i wkkywU ˆewkówU †c‡q‡Q wK bv (AviI Rvbv hv‡e wmwfGm Ges A¨vgwbqwmb‡_wmm wjd‡jU †_‡K)| GwU Ggb GKwU welq hv wb‡q Avcbvi Wv³vi ev ¯v¯_¨ welqK Dc‡`óv‡`i m‡•M civgk© Kiv Avek¨K| cwiev‡ii Ab¨vb¨ m`m¨ cwiev‡ii GKR‡bi hw` G· m¤ú„³ ˆewkó _v‡K ev wZwb evnK nb Z‡e Zv wb‡q cwiev‡ii Ab¨vb¨ m`m¨‡`i m‡•M Avjvc Kiv †h‡Z cv‡i| G‡Z K‡i cwiev‡ii Ab¨vb¨ m`m¨MYI B‡”Q Ki‡j Zvu‡`i i³ cix¶v K‡i †R‡b wb‡Z cv‡ib Zvuiv evnK wK bv| GB Z_¨ cwiev‡ii Ab¨ m`m¨‡`i‡KI cix¶v K‡i wb‡Z DØy™a Ki‡e| GwU hvu‡`i mš—vb Av‡Q Ges hvu‡`i fwel¨‡Z mš—vb nIqvi m¤¢vebv i‡q‡Q Zvu‡`i Df‡qi Rb¨B Riywi| wKQz gvbyl Zvu‡`i †R‡bwUK KwÛkb m¤ú‡K© cwiev‡ii Ab¨ m`m¨‡`i Kv‡Q mn‡R ej‡Z cv‡ib bv| †Kv‡bv †Kv‡bv cwiev‡i cwiev‡ii Ab¨vb¨ m`m¨‡`i

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Ki‡eb bv| Ggb nq KviY cyiylMY me©`v Zvui IqvB †KªvgRgwU Zvui cy‡Zªi g‡a¨ mÂvjb K‡ib (hw` wZwb Zvui G· †KªvgRgwU mÂvjb Ki‡Zb Z‡e GKwU Kb¨v-mš—vb jvf Ki‡Zb)| Qwe 4: G· m¤ú„³ cÖ”Qbœ ˆewkó AvKªvš— cyiyl Øviv Kxfv‡e mÂvwjZ nq

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AvKªvš— cyiyl AbvKªvš— bvix

—ªx evnK —ªx evnK AbvKªvš— cyiyl AbvKªvš— cyiyl

¯vfvweK wRb

AvKªvš— wRb

†KªvgRgwU cwiewZ©Z wR‡bi KvR Pvwj‡q wb‡Z cv‡i| Ggb Ae¯_vq †m bvix mvaviYZ G· m¤ú„³ ˆewkó GKRb my¯_¨ evnK n‡q _v‡Kb| evnK n‡q _vKv A_©, Avcbvi †Kv‡bv KwÛkb [ˆewkó] †bB wKš—y Avcwb GKwU cwiewZ©Z wR‡bi Kwc enb K‡i P‡j‡Qb| Ggb Ae¯_v‡ZI wKQz wKQz †¶‡Zª bvixiv G ˆewk‡ói wKQz j¶Y cÖ`k©b K‡ib| cyiy‡li GKwU G· I GKwU IqvB †KªvgRg _v‡K ZvB Zv‡`i G· †KªvgR‡gi GKwU wR‡b hw` †Kv‡bv cwieZ©b _v‡K Z‡e Zv‡`i Av‡iKwU G· †KªvgRg †bB hv‡Z K‡i cwiewZ©Z wR‡bi KvR Pvwj‡q wb‡Z cv‡i| Gi A_© n‡”Q †h wZwb H ˆewkó Øviv AvKªvš— n‡eb| Gfv‡e †h ˆewkó Rb¥m~‡Zª cvIqv hvq Zv‡K G· m¤ú„³ cÖ”Qbœ ˆewkó e‡j| G· m¤ú„³ wKQz ˆewk‡ói bgybv, †n‡gvwdwjqv, Wy‡mb gvmKzjvi wWmUªwd I d¨«vRvBj G·| G· m¤ú„³ cÖKU `vqfvM hw`I G· m¤ú„³ ˆewkó AwaKvskB cÖ”Qbœ Zey KLbI KLbI G· m¤ú„³ ˆewkó cÖejfv‡e cwievwnZ/mÂvwjZ nq| Gi A_© GB †h, hw`I GKRb bvix GKwU ¯vfvweK wR‡bi Kwc I GKwU cwiewZ©Z wR‡bi Kwc Rb¥m~‡Zª †c‡q _v‡Kb cwiewZ©Z wRbwU GZ`msKªvš— ˆewkó m„wó Kivi Rb¨ h‡_ó| GKRb cyiyl hw` GKwU cwiewZ©Z wRb Rb¥m~‡Zª cvb Z‡e cwiewZ©Z wRbwU GZ`msKªvš— ˆewkó m„wó Kivi Rb¨ h‡_ó KviY Zvui GKwU gvZª G· †KªvgRg| GKRb AvKªvš— bvixi 50% (2-G 1) AvKªvš— mš—v‡bi (cyZª I Kb¨v) Rb¥ †`Iqvi m¤¢vebv _v‡K| GKRb AvKªvš—— cyiy‡li mKj Kb¨v AvKªvš— I mKj cyZª AbvKªvš— n‡e|

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G· m¤ú„³ cÖ”Qbœ ˆewkó Kxfv‡e Rb¥m~‡Zª cvIqv hvq? Qwe 3: G· m¤ú„³ cÖ”Qbœ ˆewkó bvix-evnK Øviv Kxfv‡e mÂvwjZ nq

GKRb bvix evn‡Ki hw` cyZª-mš—vb nq, Z‡e wZwb Zvui mš—vb‡K nq GKwU ¯vfvweK wRb A_ev GKwU cwiewZ©Z wRb cÖ`vb Ki‡eb| myZivs cÖwZwU cyZª-mš—v‡bi GKwU cwiewZ©Z wRb cvIqvi Ges Zv Øviv AvKªvš— nIqvi 50% (2-

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—ªx evnK AbvKªvš— cyiyl

—ªx evnK AbvKªvš— bvix AbvKªvš— cyiyl AvKªvš— cyiyl

¯vfvweK wRb

AvKªvš— wRb

Gi g‡a¨ 1) m¤¢vebv _v‡K| †Q‡jwUi ¯vfvweK wRb cÖvwßi m¤¢vebv _v‡K 50% (2-Gi g‡a¨ 1)| Ggb NU‡j †m GZ`msKªvš— ˆewkó Øviv AvKªvš— n‡e bv| cÖwZwU cyZª-mš—v‡bi Rb¨ GB m¤¢vebv mgvb| GKRb bvix evn‡Ki hw` Kb¨v-mš—vb nq, Z‡e wZwb Zvui mš—vb‡K nq GKwU ¯vfvweK wRb A_ev GKwU cwiewZ©Z wRb cÖ`vb Ki‡eb| myZivs cÖwZwU Kb¨v-mš—v‡bi GKwU cwiewZ©Z wRb cvIqvi 50% (2-Gi g‡a¨ 1) m¤¢vebv _v‡K| hw` Ggb N‡U Z‡e Kb¨vwU Zvi gv‡qi g‡Zv evnK n‡e| †g‡qwUi GKwU ¯vfvweK wRb cÖvwßiI m¤¢vebv _v‡K 50% (2-Gi g‡a¨ 1)| Ggb NU‡j †m evnK †Zv n‡eB bv †Kv‡bv cÖKvi ˆewkó Øviv AvKªvš—I n‡e bv| cÖwZwU Kb¨v-mš—v‡bi Rb¨ GB m¤¢vebv mgvb|

G· m¤ú„³ ˆewkó Øviv AvKªvš— GKRb cyiyl hw` GKwU Kb¨v-mš—vb jvf K‡ib Z‡e wZwb me©`vB Zvi cwiewZ©Z wRbwU Zv‡K cÖ`vb Ki‡eb| Ggb nq KviY Zvi GKwUB gvZª G· †KªvgRg _v‡K Ges Zv wZwb Zvui Kb¨v mš—v‡bi g‡a¨ mÂvjb K‡ib| myZivs Zvui mKj Kb¨v-mš—vbB evnK n‡e| Kb¨v-mš—vbMY mvaviYZ †Kv‡bv ˆewkó cv‡e bv, wKš—y Zvui cyZª-mš—vbM‡Yi AvKªvš— nIqvi m¤¢vebv _v‡K| G· m¤ú„³ ˆewkó Øviv AvKªvš— GKRb cyiyl hw` GKwU cyZª-mš—vb jvf K‡ib Z‡e Zvui cyZª KLbB Zvi cwiewZ©Z wRbhy³ G· †KªvgRgwU Zv‡K cÖ`vb

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