¦Ï¤]¦³"ÂH¦hÁÞ¯g"
Ãþ§O : ¦Ï
¥Ñ ShuYing µo§G©ó 2007/12/19
¦Ï¤]¦³"ÂH¦hÁÞ¯g"

¿ò¶Ç¨|ºØ²Õ¡þªL¼w¨|

¡@¡@ÂH¦hÁÞ¯g(Mucopolysaccharidosis)¡A¬O¤@ºØ¿ò¶Ç©Ê¥NÁ²§±`¯e¯f¡A¯f¦]¬OÅ餺¯Ê¥F¥i¥NÁÂÂH¦hÁÞªº»Ã¯À¡AÂH¦hÁÞµLªk¸g¥Ñ¥NÁ«á±Æ¥XÅé¥~¡A³y¦¨ÂH¦hÁÞ°ï¿n¦b°©Àf¡B¨xŦ¡BµÊŦ©M¸£³¡µ¥³¡¦ì¡A©Ò¤Þ°_ªº¯f¯g¡C¤HÃþªºÂH¦hÁÞ¯g¥i·§¤À¬°¤»ºØÃþ«¬¡AÄY­«µ{«×¦U¦³¤£¦P¡A¨äµo¥Í²v¦b¦è¤è°ê®a¬ù¬°¤­¸U¨ì¤Q¸U¤À¤§¤@¡A¥xÆW¦a°Ï¾ÚÂå¾Ç±M®a¦ô­p¦Ü¤ÖÀ³¸Ó¦³¤@¦Ê¤­¤Q¡ã¤G¦Ê­Ó¤H¿©±w¦¹¶µ¿ò¶Ç¯e¯f¡C

¡@¡@¸tµá§Q¬f¤ó¯g(Sanfilippo Syndrome)¬OÂH¦hÁÞ¯g²Ä¤T«¬¡A¬°¸tµá§Q¬fÂå®v(Dr. Sanfilippo)»P¤@¸s¬ü°êÂå¥Í¦b1963¦~­º¦¸µoªí¡C¦]¦¹¡A±NÂH¦hÁÞ¯g²Ä¤T«¬¥H¥Lªº¦W¦r©R¦W¡CºI¦Ü¥Ø«e¬°¤î¤wµo²{¦³¥|ºØ¤£¦P»Ã¯Àªº¯Ê¥F·|¾É­P¸tµá§Q¬f¤ó¯gªºµo¥Í¡A¤S±N¸tµá§Q¬f¤ó¯g¤À¦¨¥|­Ó¨È«¬(A,B,C,D)¡C¦b­^°ê¡B¿©±wA«¬ªº¯fµ£³Ì¦h¡AB«¬©MC«¬ªº¯fµ£¤]¬°¼Æ¤£¤Ö¡A¦ýD«¬«h«D±`¨u¨£¡A¦Ü¤µ¥þ¥@¬É¶Èµo²{¤C­Ó¯f¨Ò¡C¸tµá§Q¬f¤ó¯gD«¬¬O¥Ñ©ó¤AñQÁÞÓi®ò°ò²¸»Ä(N-acetylglucosamine 6-sulfatase, G6S; 3.1.6.14)¯Ê³´¦ÓµLªk¥¿±`¤À¸Ñ¨xÂHÁÞ²¸»ÄÆQ(heparan sulphate)ªº¯S®íÂH¦hÁÞ¡A¾É­PÂH¦hÁÞ¦b°©Àf»P³n²Õ´¤¤µLªk³Q§Q¥Î¡A¦Ó±À¿n©óÅ餺²Ó­M¤¤¡A³y¦¨¹ï²Ó­Mªº¯}Ãa¦Ó¤ÞµoªºÂH¦hÁÞ¯g¡C¯f±w¦b¾Ç¨B´Á¥Íªøµo¨|¥¿±`¡A¤§«á¶}©l¥¢¥h¦Ù¦×¨ó½Õ¯à¤O¡A¤Q¨Ó·³¥ª¥k´N·|¦º¤`¡C

¡@¡@¤s¦Ï¤]¦³ÂH¦hÁÞ¯g¡A¤s¦ÏÂH¦hÁÞ¯g²Ä¤T«¬¡A«UºÙG6S(¬Û·í©ó¤HÃþ¸tµá§Q¬f¤ó¯gD«¬)¡A¬O¤@ºØ¿ò¶Ç¯Ê³´©Ò¾É­Pªº¥NÁ©ʯe¯f¡A¥B¬°¤@²³æªºÁô©Ê°ò¦]¿ò¶Ç¡C¤]´N¬O»¡¡A¦pªG¤½¦Ï»P¥À¦Ï¬Ò¥N¦³¦¹¤@Áô©Ê¤£¨}°ò¦]³£¬OÄâ±a«¬(Carrier, GC)­ÓÅé¡A§Y¬Ò¬°Âø¦X«¬(±a¦³¤@­Ó¤£¨}°ò¦])¡A¨º»ò¥L­Ì©Ò¥Íªº¤p¦Ï·|¦³25%¬°¥¿±`«¬(normal, TG)¡A50%¬°Äâ±a«¬¡A25%«h¬°¦³¯f«¬(affected, G6S)¡A¦pªG¬O¥¿±`«¬­ÓÅé»PÄâ±a«¬­ÓÅé©Ò¥Íªº«á¥N¡A±N·|¦³50%¬°¥¿±`«¬¡A50%³£¬°Äâ±a«¬¡CG6S³Ì¦­¬O¦b1980¦~¥N¥Ñ¬ü°ê±K¦è®Ú¤j¾Çªº¬ã¨s¤H­û¦b§V¤ñ¨È(Nubian)¤s¦Ï«~ºØ¤¤©Òµo²{ªº¡C¥L­Ì³Ìªìµo²{¤@ÀY¤p¤½¦Ï¦³¯«¸g¤Wªº°ÝÃD¡A¨ä¯gª¬»P¤HÃþ±w¦³ÂH¦hÁÞ¯gªº¤p«Ä¬Û¦ü¡C¸Ó¤p¦Ï¦b¥|¤ëÄÖ«eªº¥Íªø¤]¬O¥¿±`ªº¡A¦b¥~Æ[¤W¤p¦ÏªºÀY°¼­±¥­©Z¡A¦ý¤§«á¥Íªø°±º¢¡C³q±`¦³¯f«¬ªº¤s¦Ï¬ù¥i¬¡¨ì3¡ã4·³ÄÖ¡A¯gª¬¥]¬A¡GÅ髬¤p¡A¥¢¥h¦Ù¦×¨ó½Õ¯à¤O¡A¦³§K¬Ì¨t²Î»P¤ßŦªº°ÝÃD¡A¤£©ö¨ü¥¥¡A¬J¨Ï¨ü¥¥¤]·|¦³¬y²£©Î¦º²£µo¥Í¡Aºû«ùÃh¥¥¹Lµ{§xÃøµ¥¡C¦b¥Í¤Æ»P²Õ´¤Æ¾Ç¤Wªº¤ÀªRµ²ªG¡A§¿¤¤¦³¨xÂHÁÞ²¸»ÄÆQ°ï¿n¡A¥H¤Î¨xŦ§t¦³´åÂ÷ªº¤AñQÁÞÓi®ò°ò²¸»ÄÆQ¡C°£Âǥѥ~Æ[¯S¼xªº¶EÂ_»P§¿²G¤¤ÂH¦hÁÞ¥NÁª«µ¥ªº¥Í¤Æ¾ÇÀËÅç¥~¡AÀ³¥Î¤À¤l¥Íª«§Þ³N¨ÓÀË´úG6S°ò¦]¿ò¶Ç«¬ªº¤èªk¤w¦b1995¦~¥Ñ¬ü°ê±K¦è®Ú¤j¾ÇLeipprandtµ¥¤H¬ãµo¥X¨Ó¡CÀ³¥Î¸Ó¬ã¨s«Ç©Ò«Ø¥ßªº¤s¦Ï¤AñQÁÞÓi®ò°ò²¸»ÄcDNA§Ç¦C³]­p¤@²Õ¤Þ¤l¶i¦æ»E¦X酶³sÂê¤ÏÀ³¡A±N¼W´T¥XªºPCR²£ª«¥H­­¨î酶Alu I¤À¤Á«á¡A¶i¦æ¹qªa¤ÀªR¡CPCR²£ª«¬°96bp¡A¥¿±`«¬­ÓÅé©Ò¼W´T¥XªºPCR²£ª«µL­­¨î酶Alu Iªº¤ÁÂI©Ò¥H¤´§e²{¤@±ø96bpªºDNA¤ù¬q¡A¦³¯f«¬ªº­ÓÅéDNA¬Ò¦³¤@­­¨î酶Alu Iªº¤ÁÂI©Ò¥H96bp DNA¤ù¬q·|³Q¤Á¦¨¨â­ÓDNA¤ù¬q(66bp»P30bp)¦Ó§e²{¤G±øDNA¤ù¬q(66bp»P30bp)¡AÂø¦X«¬ªº¦Ï°¦«h¦³¤T±øDNA¤ù¬q(96bp, 66bp»P30bp)¡C¥Ø«e¤w¦³³\¦h¬ã¨s¹Î¶¤¥H¤s¦Ï¬°°Êª«¼Ò¦¡¨Ó¶i¦æÂH¦hÁÞ¯g²Ä¤T«¬ªvÀøªº¬ã¨s¤u§@¡A´Á¬ß¯àÀ³¥Î¨ì¤HÃþÂH¦hÁÞ¯gªºªvÀø¡C

¡@¡@G6S¦b§V¤ñ¨È¤s¦Ï¬O¤@ºØÄY­«ªº¿ò¶Ç¯e¯f¡A¦b¬ü°ê±K¦è®Ú¦{ªþªñªº¦Ï¸s¤¤¬ù¦³1/4³Qµo²{¬°Âø¦X«¬¡C¥Ø«e¦b¥xÆW¤s¦Ï²£·~¦b¾iÀY¼Æ¬ù28¸U5¤dÀY¡A²£­È¬ù173,897¸U¤¸¡A¬ù¦û¯b²£Á`²£­Èªº2%(90¦~¹A·~¦~³ø)¡C§V¤ñ¨È¤s¦Ï¬°¥xÆW­«­nªº¤s¦Ï«~ºØ¤§¤@¡A¬°¨Å¦×­Ý¥Îªº«~ºØ¡A¥xÆW¥D­n¦×¦Ï«~ºØ¬°§V¤ñ¨È»P¥xÆW¤s¦Ï¤§Âø¥æ§ï¨}«~ºØ¡C¦³Å²©ó¤åÄm©Ò³ø¾É§V¤ñ¨È¤s¦Ï¦³°ª¤ñ²v(25%)ªº¦Ï°¦±a¦³¤s¦ÏÂH¦hÁÞ¯g²Ä¤T«¬ªº¤£¨}°ò¦]¡A¯b¸Õ©Ò¬ã¨s¤H­û¤D¨Ì¾ÚLeipprandtµ¥¤H¬ãµo¥XªºÀË´ú¤èªk¹ï«n³¡¬Y¤@¦Ï³õ©Ò±Ä¶°ªº§V¤ñ¨È¤s¦ÏºØ¦Ï20ÀY(2¤½18¥À)¶i¦æÀË´ú¡Aªì¨Bµ²ªG¥ç°ª¹F25%(5/20)ÀY±a¦³¦¹¤£¨}°ò¦]¡AÅã¥Ü¸Ó¤£¨}°ò¦]¦s¦b©ó¸Ó¦Ï³õ¤¤¡C¦Ó¥xÆW²{¦³¦Ï¸s¤¤¡A¦¹¤£¨}°ò¦]¦s¦bªºÀW²v¦³¦h°ª¡H«h¦³«Ý¶i¤@¨BÂX¤j¼Ë«~ÀË´ú¨Óµû¦ô¡A¥»¤å¥Øªº°£¤¶²Ð¤s¦ÏÀ³¥Î©ó¤HÃþÂH¦hÁÞ¯gªvÀø¬ã¨sªº°Êª«¼Ò¦¡¥~¡A¨ÃÂǥѤs¦ÏG6S¤À¥ÍÀË´ú§Þ³Nªº«Ø¥ß¡Aªì¨B±´°Q¸Ó¤£¨}°ò¦]¦s¦b¦Ï¸sªºÀW²v¡A´Á¯à¨ó§U¥»¬Ù¾i¦Ï²£·~±N¦¹¤£¨}°ò¦]¿z°£¡A¥H´î¤Ö¦]¦¹¤@¤£¨}°ò¦]©Ò³y¦¨ªº¸gÀÙ·l¥¢¡C


¹Ï 1. §V¤ñ¨È¤s¦Ï


¹Ï 2. ¤s¦ÏÂH¦hÁÞ¯g²Ä¤T«¬²Ä¥|¨È«¬¿ò¶ÇÀË´ú¤§¹qªa¥Ü·N¹Ï¡C

¥HG6SÀË´ú¤Þ¤l¸gPCR¼W´T«áªºPCR²£ª«¬°96 bp¡A¥¿±`«¬(TG)­ÓÅé©Ò¼W´T¥XªºPCR²£ª«µL­­¨îÈSAluIªº¤ÁÂI©Ò¥H¸g­­¨îÈSAluI¤À¤Á«á¤´§e²{¤@±ø96bp ªºDNA ¤ù¬q¡A¦³¯f«¬(G6S)­ÓÅ骺DNA¬Ò¦³¤@­­¨îÈSAluIªº¤ÁÂI©Ò¥H96bpDNA¤ù¬q·|³Q¤Á¦¨¨â­ÓDNA¤ù¬q(66bp»P30bp)¦Ó§e²{¤G±øDNA ¤ù¬q(66bp »P30bp)¡AÄâ±a«¬(GC)ªº¦Ï°¦«h¦³¤T±øDNA ¤ù¬q(96bp, 66bp ¤Î30bp)¡CM¬°DNA¤À¤l¤j¤p¼Ð»x(Roche, DNA Molecular Weight Marker XIII)¡C