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»ê°úÀ¯ÀüÇÐ, »êÀüÁø´Ü ¹× »ó´ã
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½À°ü¼º À¯»ê, ÅÂ¾Æ ±âÇüÀÇ ¿øÀÎÀ¸·Î ¿©·¯ À¯ÀüÀÚº¯ÀÌ°¡ ¾Ë·ÁÁ® ÀÖÀ½.
À¯ÀüÀÚ Áø´Ü °á°ú´Â À±¸®Àû, ¹ýÀû, »çȸÀû °á°ú¸¦ °¡Á®¿Ã ¼ö ÀÖÀ¸¹Ç·Î ÀûÀýÇÑ À¯Àü»ó´ãÀÌ Áß¿ä.
À¯Àü ÁúȯÀÇ Á¾·ù¿Í Ãâ»ý °áÇÔ *¿øÀο¡ µû¸¥ ºÐ·ù ¿°»öü ÀÌ»ó (¿¹, ´Ù¿îÁõÈıº) ´ÜÀÏÀ¯ÀüÀÚÁúȯ (¿¹, Ç÷¿ìº´, ±ÙÀÌ¿µ¾çÁõ)
´ÙÀ¯ÀüÀÚ¼º(polygenic)/´ÙÀÎÀÚ¼º(multifactorial)Áúȯ: ´ëºÎºÐÀÇ ¼±Ãµ¼º ±âÇüÀÌ ¼ÓÇÔ (¿¹, ¼öµÎÁõ, ¹«³úÁõ, À̺ÐôÃß, ÀÔ¼ú°¥¸²Áõ, ½ÉÀå°áÇÔ, À¯¹®ÇùÂø, Á¦´ëÅ»Ãâ µî)
°áÇÔÀ¯¹ß¹°Áú¿¡ ÀÇÇÑ Áúȯ À¯Àü ÁúȯÀÇ Á¾·ù¿Í Ãâ»ý °áÇÔ *Ãâ»ý °áÇÔÀÇ ±âÀü¿¡ µû¸¥ ºÐ·ù
±âÇü(malformation): ºñÁ¤»óÀûÀÎ À¯ÀüÀÚ¿¡ ÀÇÇÑ °áÇÔ
º¯Çü(deformation): Á¤»ó À¯ÀüÀÚÀ̳ª ÀÚ±ÃÀÇ È¯°æ¿¡ ÀÇÇÑ ¹°¸®Àû ÈûÀ¸·Î ºñÁ¤»óÀûÀ¸·Î ¹ß´Þ (¿¹, ¾ç¼ö°ú¼ÒÁõ)
ÆÄ¿(disruption): Á¤»ó À¯ÀüÀÚÀ̳ª ƯÁ¤ ¼Õ»ó¿¡ ÀÇÇÑ º¯Çü (¿¹, ¾ç¸· ÆÄ¿¿¡ ÀÇÇÑ ÇÏÁö °áÇÔ)
À¯Àü ÁúȯÀÇ Á¾·ù¿Í Ãâ»ý °áÇÔ *º¹ÇÕÀûÀÎ ±¸Á¶Àû °áÇÔÀ̳ª ¹ß´Þ ÀÌ»óÀÇ ºÐ·ù
ÁõÈıº (syndrome): °°Àº ¿øÀο¡ ÀÇÇÑ ¿©·¯ °áÇÔÀÇ ÁýÇÕ (¿¹, ´Ù¿îÁõÈıº)
¼¿ (sequence): ¼ø¼Àû °áÇÔ (¿¹, ¾ç¼ö°ú¼ÒÁõ¿¡ ÀÇÇÑ º¯Çü)
¿¬°ü (association): ¿øÀÎÀÌ °°Áö´Â ¾ÊÀ¸³ª ƯÁ¤ÇÑ °áÇÔÀÌ µ¿½Ã¿¡ ÀÚÁÖ º¸ÀÌ´Â °Í
º¸Åë¿°»öü ¿ì¼ºÀ¯Àü (autosomal dominant) achondroplasia acute intermittent porphyria adult polycystic kidney disease antithrombin iii deficiency brca1 and brca2 breast cancer ehlers-danlos syndrome familial adenomatous polyposis familial hypercholesterolemia hereditary hemorrhagic telangiectasia hereditary spherocytosis huntington disease hypertrophic obstructive cardiomyopathy long qt syndrome marfan syndrome myotonic dystrophy neurofibromatosis type 1 and 2 tuberous sclerosisvon willebrand disease
´ÜÀÏÀ¯ÀüÀÚÁúȯ (single gene disorders, mendelian disorders)
º¸Åë¿°»öü ¿¼ºÀ¯Àü (autosomal recessive) ¥á1-antitrypsin deficiency congenital adrenal hyperplasia cystic fibrosis gaucher disease hemochromatosis homocystinuria phenylketonuria sickle cell anemia tay-sachs disease thalassemia syndromes wilson disease x-linked androgen insensitivity syndrome chronic granulomatous disease color blindness fabry disease fragile x syndrome glucose-6-phosphate deficiency hemophilia a and b hypophosphatemic rickets muscular dystrophyduchenne and becker ocular albinism type 1 and 2 ¿°»öü °Ë»ç¹ý ¼¼Æ÷ºÐ¿Áß±â(metaphase)ÀÇ ¼¼Æ÷ Ç÷¾×À̳ª ¾ç¼ö¼¼Æ÷´Â ÀÏÁ¤±â°£ ¹è¾çÀÌ ÇÊ¿ä °Ë»ç¹ý ¶ì¿°»ö(banding)
Çü±¤Á¦ÀÚ¸®ºÎÇÕ¹ý(fluorescent in situ hybridization)
southern blotting polymerase chain reaction (pcr)
ºñ±³À¯ÀüüºÎÇÕ¹ý(comparative genomic hybridization)
¿°»öüÀÇ ¼öÀû ÀÌ»ó Ȧ¹è¼öü(aneuploidy)
¼¼¿°»öü(trisomy), Ȭ¿°»öü(monosomy), Ȭ¹è¼öü(haploidy), ´Ù¹è¼öü(polyploidy)
¼¼¿°»öü
°¨¼öºÐ¿½Ã ºñºÐ¸®(nondisjunction)¿¡ ÀÇÇØ ¹ß»ý.
¸ðüÀÇ ¿¬·ÉÀÌ ³ô¾ÆÁú¼ö·Ï Áõ°¡.
´ëºÎºÐ Ȧ¹è¼öü ÀÓ½ÅÀº Á¶±â¿¡ À¯»êµÇ°í ÀϺΠ¼¼¿°»öü¸¸ÀÌ ÀÓ»ó¿¡¼ ¹ß°ß
13, 18, 21 ¼¼¿°»öü ÁõÈıº ¿°»öüÀÇ ¼öÀû ÀÌ»ó Ȭ¿°»öü ÅͳÊÁõÈıº
¸ðüÀÇ ³ªÀÌ¿ÍÀÇ ¿¬°ü¼ºÀº ¹àÇôÁø ¹Ù ¾ø´Ù.
¹è¼ö¼ºÀÌ»ó ´ëºÎºÐ Ãʱ⿡ À¯»ê
Ȧ¹è¼öü¿Í ºÎ°èÀÇ ³ªÀÌ¿Í´Â ¿¬°ü¼ºÀÌ ¾ø´Ù. (ÀÌÇÏ »ý·«)
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