| ¿µ¹® | syndrome | ÇÑ±Û | ÁõÈıº |
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| ¼³¸í | Áõ»óÀÇ ÁýÇÕ. ¾î¶² Áúº´ÀÇ Â¡ÈÄÀÇ ÃÑÇÕÀ» ¸»ÇÑ´Ù. ´ë°³ ±× ¿øÀÎÀº ¾Ë ¼ö ¾øÀ¸³ª, Áõ»óÀÌ º¹ÇÕÀûÀ¸·Î ³ªÅ¸³ª°í ÀÌ¿¡ ´ëÇÑ Ä¡·á°¡ ÀÏÁ¤ÇÑ °æ¿ì ÇϳªÀÇ ÁõÈıºÀ¸·Î Ãë±ÞÇÑ´Ù. |
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| ¿µ¹® | asphycitic syndrome | ÇÑ±Û | Áú½ÄÁõÈıº |
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| ¼³¸í | È£Èí±âÁßÀÇ »ê¼Ò°áÇÌ¿¡ ÀÇÇÑ »ý¸íÁ¤ÁöÀÇ Àý¹ÚÇÑ »óÅÂ, ¶Ç´Â ½ÇÁ¦·Î Á¤Áö°¡ ÀÏ¾î³ »óÅÂ, °íÀÌ»êÈź¼ÒÁõ°ú Àú»ê¼ÒÁõ ȤÀº ¹«»ê¼ÒÁõ µîÀÌ µ¿¹ÝµÈ´Ù. ¿Ü°è ÆóÀÇ °íÅëÀÌ µÎÀýµÇ¾î ÆóÀÇ È£ÈíÀÛ¿ëÀÌ Àå¾ÖµÇ´Â °Í(¿ÜÁú½Ä)°ú °¡½º³ª ¾àÁ¦¿¡ ÀÇÇØ »ýü³» Á¶Á÷ÀÇ °¡½º±³È¯ÀÌ ¹æÇظ¦ ¹Þ´Â °Í(³»Áú½Ä)ÀÌ ÀÖ´Ù. ÀϹÝÀûÀ¸·Î ¿ÜÁú½ÄÀ» °¡¸®Å°´Â °æ¿ì°¡ ¸¹´Ù. ¿øÀÎÀ¸·Î¼´Â ÄÚ³ª ÀÔ µî È£ÈíÀÔ±¸ÀÇ Æó»ö, À½½Ä¹°À̳ª À̹°¿¡ ÀÇÇÑ ±âµµÆó»ö, ¸ñÁ¶ÀÓ, ¹° ¶Ç´Â ºÐºñ¹° µîÀÌ ±âµµ·Î µé¾î°¡´Â °Í, ¾à¹° ¶Ç´Â ÆÄ»ódz¿¡ ÀÇÇÑ È£Èí±Ù¸¶ºñ, ¸Å¸ô µî ¿Ü·Â¿¡ ÀÇÇÑ È£Èí¿îµ¿ÀÇ ÀúÁö, °ø±â ÁßÀÇ »ê¼ÒºÎÁ· ¹× À¯µ¶°¡½ºÀÇ ÈíÀÔ µîÀ» µé ¼ö ÀÖ´Ù. |
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| ¿µ¹® | nephrotic syndrome | ÇÑ±Û | ÄáÆÏÁõÈıº |
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| ¼³¸í | ÄáÆÏÀÇ Å丮ÀÌ»ó¿¡ ÀÇÇÑ ´Ü¹éÁú¼Õ½ÇÀÌ ÁÖ¿øÀÎÀÎ º´ÀÌ´Ù. ±× Á¤ÀÇ´Â ¼ºÀÎÀÇ ¿ä´Ü¹é·®(¼Òº¯¿¡ ¼¯¿© ³ª¿À´Â ´Ü¹éÁúÀÇ ¾ç. ´ë°³ Á¤»óÀο¡¼´Â ³ª¿ÀÁö ¾Ê°Å³ª, ȤÀº ¾ÆÁÖ ¼Ò·®ÀÌ ³ª¿Ã »ÓÀÓ)ÀÌ ÇÏ·ç 3.5mgÀÌ»ó, ¶ÇÇÑ ¼Ò¾Æ¿¡¼´Â Ç÷Áß ¾ËºÎ¹Î³óµµ°¡ 2.5mgÀÌÇÏ, ÇÏ·íµ¿¾È ¼Òº¯À¸·Î ³ª¿À´Â ¿ä´Ü¹é·®À» ½Ã°£´ç °è»êÇßÀ» ¶§ ½Ã°£´ç 40mgÀÌ»óÀÎ °æ¿ìÀÌ´Ù. µû¶ó¼ ÄáÆÏÁõÈıºÀ̶õ À§ÀÇ Á¤ÀÇ¿¡ ÇÕ´çÇϱ⸸ ÇÏ¸é ¸ðµÎ ÇØ´çµÇ¹Ç·Î, ¿©·¯ °¡Áö ¿øÀο¡ ÀÇÇÑ ÄáÆÏÀÌ»óÀ¸·Î¼ ´Ü¹éÁúÀÇ Áö³ªÄ£ ¹èÃâÀ» ³ªÅ¸³»´Â Áúº´ÀÇ ÁýÇÕü¸¦ ¶æÇÑ´Ù. ´ë°³ Áõ»óÀº Áö³ªÄ£ Ç÷ÁߴܹéÁúÀÇ °¨¼Ò·Î ÀÎÇÑ ºÎÁ¾, ±×¸®°í ÀÌÂ÷ÀûÀÎ Áõ»óÀ¸·Î ¹ß»ýÇÑ °íÁöÁúÇ÷Áõ, °¨¿°°¨¼ö¼ºÀÇ Áõ°¡, °íÇ÷¾Ð µîÀÌ´Ù. Ä¡·á¿Í ¿¹ÈÄ´Â ÄáÆÏÁõÈıºÀ» ³ªÅ¸³»´Â °¢ ¿øÀο¡ µû¶ó ´Ù¸£³ª, ´ë°³ ¼Ò¾Æ¿¡ ¹ß»ýÇÑ °æ¿ì ½ºÅ×·ÎÀ̵åÁ¦Àç¿¡ ÀÇÇÑ Ä¡·áÈ¿°ú°¡ ³ô´Ù. |
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| ¿µ¹® | Cushing's syndrome | ÇÑ±Û | Äí½ÌÁõÈıº |
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| ¼³¸í | Äí½ÌÁõÈıºÀ̶õ ±Û·çÄÚÄÚ¸£Æ¼ÄÚÀ̵尡 ¸¸¼ºÀûÀ¸·Î °úÀ׺кñ¿¡ ÀÇÇØ¼ ÀϾ´Â º´À» ¸»ÇÑ´Ù. ¿øÀÎÀ¸·Î ¨ç ³úÇϼöü¿¡¼ ACTH°¡ °úÀ× ºÐºñµÇ´Â °æ¿ì: ³úÇϼöü¿¡¼ ACTH°¡ ³Ê¹«³ª ¸¹ÀÌ ºÐºñµÇ´Â °æ¿ì¿¡ ºÎ½Å°ÑÁúÀ» ÀÚ±ØÇؼ ¸¹Àº ¾çÀÇ ±Û·çÄÚÄÚ¸£Æ¼ÄÚÀ̵尡 ºÐºñµÈ´Ù. ¨è ³úÇϼöü ÀÌ¿ÜÀÇ ºÎºÐ¿¡¼ ACTH°¡ ¸¹ÀÌ ºÐºñµÇ´Â °æ¿ì: Æó¾Ï, ³¼Ò¾Ï µîÀÇ Á¾¾ç¿¡¼ ACTH¸¦ »ý»êÇÏ´Â °æ¿ì°¡ ÀÖ´Ù. ÀÌ °æ¿ì¿¡µµ ¿ª½Ã ºÎ½ÅÇÇÁúÀÌ ÀÚ±ØÀÌ µÇ¾î¼ ¸¹Àº ¾çÀÇ ±Û·çÄÚÄÚ¸£Æ¼ÄÚÀ̵尡 ºÐºñµÈ´Ù. ¨é ACTHÀÇ ÀÚ±ØÀÌ ¾øÀÌ ºÎ½Å¿¡¼ ¸¹Àº ¾çÀÇ ±Û·çÄÚÄÚ¸£Æ¼ÄÚÀ̵尡 ³ª¿À´Â °æ¿ì. ACTHÀڱؿ¡ °ü°è¾øÀÌ ºÎ½ÅÇÇÁúÀÇ °úÀ×¼ºÀå, Á¾¾ç¿¡ ÀÇÇØ¼ ¸¹Àº ¾çÀÇ ±Û·çÄÚÄÚ¸£Æ¼ÄÚÀ̵尡 ºÐºñµÇ´Â °æ¿ì. ¨ê ¿ÜÀμº, ÀÇÀμº: Ä¡·á¸¦ À§Çؼ ¸¹Àº ¾çÀÇ ±Û·çÄÚÄÚ¸£Æ¼ÄÚÀ̵带 Àå±â Åõ¿©ÇÒ °æ¿ì¿¡ »ý±â´Â Äí½ÌÁõÈıº Äí½ÌÁõÈıº¿¡¼ ƯÈ÷ ¨ç¹ø¿¡ ÇØ´çÇÏ´Â °ÍÀ» Äí½Ìº´¶ó°í ÇÑ´Ù. Áõ»óÀº ¶×¶×ÇÏ°í ¾ó±¼ÀÌ ´Þµ¢ÀÌó·³ µÕ±Û°í »ìÀÌ ÂÈÁö¸¸ ÆÈ, ´Ù¸®´Â °¡´Ã°í ´ë½Å¿¡ ¸ö¿¡ ¸¹Àº »ìÀÌ ºÙ¾îÀÖ´Ù. ¸ñµÚ¿¡ ¸¹Àº »ìÀÌ ÀÖ¾î¼ ±×°ÍÀÌ µ¢¾î¸®¸¦ Çü¼ºÇϱ⵵ ÇÑ´Ù. À̰ÍÀº ¿ø·¡ ±Û·çÄÚÄÚ¸£Æ¼ÄÚÀ̵尡 Áö¹æÀ» ºÐÇØÇÏ´Â ¿ªÇÒÀ» ÇÏÁö¸¸ º´ÀûÀ¸·Î ¸¹ÀÌ ³ª¿Ã °æ¿ì¿¡´Â Áö¹æÀÇ ºÐÆ÷¸¦ º¯È½ÃŰ´Â ¿ªÇÒÀ» Çϱ⠶§¹®ÀÌ´Ù. Áï ÆÈ, ´Ù¸® µîÀÇ ¿Â¸ö¿¡ ÆÛÁ®ÀÖ´Â Áö¹æÀ» ¸öÅëÂÊÀ¸·Î ¸ðµÎ À̵¿½ÃŲ´Ù. ÀÜÅÐÀÌ ¿Â¸ö¿¡ °ÉÃļ ¸¹ÀÌ ³ªÀÖ°í ¿©µå¸§ÀÌ ¸¹°í ¹è¿¡ ÀÚÁÖ»ö ¼±Á¶°¡ ÀÖ´Â °æ¿ì°¡ ¸¹´Ù. ±×¸®°í ±Û·çÄÚÄÚ¸£Æ¼ÄÚÀ̵尡 ´Ü¹éÁúÀ» ºÐÇØÇØ¼ ´ç·ù¸¦ ¸¸µå´Â ¿ªÇÒÀ» ÇÏ¿© ±ÙÀ°À̳ª »À´ëÀÇ ½ÉÇÑ ¼Ò½ÇÀÌ ÀÖ´Ù. ±×·¡¼ ±ÙÀ°ÀÌ °ÅÀÇ ¾ø¾îÁö°í »À´Â ¾ÆÁÖ ºÎ·¯Áö±â ½±°Ô µÈ´Ù. ´ë°³ °íÇ÷¾ÐÀÎ °æ¿ì°¡ ¸¹°í ½É¸®ÀûÀ¸·Î ¿ì¿ïÁõÀ̳ª °ú¹Î¼º µîÀÌ ÀÖÀ» ¼öµµ ÀÖ°í ½ÉÇÑ °æ¿ì¿¡´Â Á¤½Åº´Áõ¼¼¸¦ º¸À̱⵵ ÇÑ´Ù. |
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| ¿µ¹® | Klinefelter syndrome | ÇÑ±Û | Ŭ¶óÀÎÆçÅÍÁõÈıº |
|---|---|---|---|
| ¼³¸í | 1942³â H.F. Ŭ¶óÀÎÆçÅͰ¡ ±âÀçÇÑ ¼º¿°»öüÀÌ»óÁõÈıº. Á¤»óÀÎÀÇ ¼º¿°»öüÇüÀº ³²¼º XY, ¿©¼º XX¸¦ ³ªÅ¸³»Áö¸¸, ÀÌ ÁõÈıº¿¡¼´Â ¼º¿°»öüÇüÀÌ XXY. XXYY, XXXXY µîÀÇ ¿©·¯ °¡Áö ÀÌ»óÇÑ ÇüŸ¦ ³ªÅ¸³½´Ù. ¿Ü¼º±â-ü°Ý-¼ºÂ¡ µîÀÇ Æ¯Â¡ÀûÀÎ Áõ¼¼·Î º¼ ¶§¿¡ ¿ÏÀüÇÑ ³²¼ºÀÌ °áÈ¥ÇÏ¿© ¼º»ýȰ±îÁö ÇÏ¿´À¸³ª, ÀÚ½ÄÀÌ ¾øÀÚ ºÎºÎ°¡ ÇÔ²² º´¿øÀ» ã¾Æ°¡¼ ¿°»öü¸¦ °Ë»çÇØ º¸°í ³²ÀÚ¿¡°Ô ÀÌ ÁõÈıºÀÌ ÀÖÀ½À» ¾Ë°Ô µÇ´Â °æ¿ì°¡ ¸¹´Ù. ÀÌ ¹Û¿¡ ¼ºÀÎÀÌ µÇ¾î ³ªÅ¸³ª´Â ÁÖ¿ä Áõ¼¼¸¦ µé¸é, ÀÛÀº°íȯ, ¿©¼ºÇü À¯¹æÁõ, ¹«Á¤ÀÚÁõ, ºÒÀÓ, ¿äÁß °í³ªµµÆ®·ÎÇÉÀÇ »ó½Â, Áö´É ÀúÇÏ µîÀÌ´Ù. Ä¡·á´Â 2Â÷ ¼ºÂ¡ÀÇ ÃËÁøÀ» À§ÇÏ¿© È£¸£¸ó¿ä¹ý¿¡ ÀÇÇÑ ³²¼ºÈ¸¦ ½ÃµµÇÑ´Ù. |
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| ARGS | antitrypsin-related gene sequence |
|---|---|
| CGA | catabolite gene activator; color graphics adapter |
| CGP | N-carbobenzoxy-glycyl-L-phenylalanine; chorionic growth hormone-prolactin; choline glycerophosphatid... |
| CGRP | calcitonin gene-related peptide |
| cGRP | calcitonin gene-related peptide |
| gene insertion | The addition of one or more genesinto a genome from an externalsource. (09 Oct 1997) |
|---|---|
| gene isolation | A condition caused by a pair of alleles that, when present in the heterozygous form, inhibit the fertility of the organism that possessesthem. (09 Oct 1997) |
| gene library | <molecular biology> A collection of cloned DNA fragments that contains all the genetic information of a particular organism. (09 Oct 1997) |
| gene machine | A computerised device for synthesizing genes by combining nucleotides (bases) in a specified order. (14 Nov 1997) |
| gene mapping | Determination of the relative positions of genes on a DNA molecule (chromosome or plasmid) and of the distance, in linkage units or physical units, between them. (09 Oct 1997) |
| gene markers | Detectable genetic traits or distinctive segments of DNA that serve as landmarks for a target gene. Markers are on the same chromosome as the target gene. They must be near enough to the target gene to be genetically linked to it: to be inherited usually together with that gene, and so serve as signposts to it. (12 Dec 1998) |
| gene mosaicism | <genetics> Descriptive of an organism that consists of two or more genetically distinct cell lines. (14 Nov 1997) |
| gene pool | The total sum of genetic information present in a population at anygiven moment. (09 Oct 1997) |
| gene probe | A biomolecule that islabelled with radioactive isotopes or with a fluorescent marker that selectively binds to a specific gene so it can be isolated or identified. (09 Oct 1997) |
| gene product | The biochemical material, either RNA or protein, resulting from expression of a gene. The amount of gene product is used to measure how active a gene is, abnormal amounts can be correlated with disease-causing alleles. (09 Oct 1997) |
| gene products, env | Retroviral proteins, often glycosylated, coded by the envelope (env) gene. They are usually synthesised as protein precursors (polyproteins) and later cleaved into the final products by a viral protease. (12 Dec 1998) |
| gene products, gag | Proteins coded by the retroviral gag gene. The products are usually synthesised as protein precursors or polyproteins, which are then cleaved by viral proteases to yield the final products. Many of the final products are associated with the nucleoprotein core of the virion. Gag is short for group-specific antigen. (12 Dec 1998) |
| gene products, nef | Products of the HIV nef gene (formerly 3'-orf gene). The products trans-suppress viral replication and function as negative regulators of transcription. Nef stands for negative factor. (12 Dec 1998) |
| gene products, pol | Retroviral proteins coded by the pol gene. Often synthesised as a gag-pol fusion protein (fusion proteins, gag-pol) and later cleaved into final products that include reverse transcriptase, endonuclease/integrase, and viral protease. Pol is short for polymerase, the enzyme class of reverse transcriptase. (12 Dec 1998) |
| gene products, rev | Trans-acting nuclear proteins whose functional expression are required for HIV viral replication. Specifically, the rev gene products are required for processing and translation of the HIV gag and env mRNAs, and thus rev regulates the expression of the viral structural proteins. Rev can also regulate viral regulatory proteins. A cis-acting antirepression sequence (car) in env, also known as the rev-responsive element (rre), is responsive to the rev gene product. Rev is short for regulator of virion. (12 Dec 1998) |
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