| ¿µ¹® | recessive | ÇÑ±Û | ¿¼º |
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| ¼³¸í | ´ë¸³ÇüÁú Áß ÀâÁ¾ Á¦1´ë¿¡¼ ¼û¾î¼ ³ªÅ¸³ªÁö ¾Ê´Â ÇüÁú. ¿ì¼º¿¡ ´ëÀÀµÇ´Â ¸»ÀÌ´Ù. ³ªÅ¸³ª´Â ÂÊ¿¡ ´ëÇØ ¿¼ºÀ̶ó Çϰí, ±× ÇüÁúÀ» ¿¼ºÇüÁúÀ̶ó°í ÇÑ´Ù. Á¦2´ë(F2)¿¡¼´Â ¿¼ºÇüÁúÀº ºÐ¸®µÇ¾î 1/3ÀÇ ºñÀ²·Î ³ªÅ¸³´Ù. À¯ÀüÀû ´ë¸³ÇüÁú¿¡´Â ¿ì¼º°ú ¿¼ºÀÌ ÀÖ°í, À̰͵éÀº ¿ì¼ºÀ¯ÀüÀÚ¿Í ¿¼ºÀ¯ÀüÀÚ¿¡ ÀÇÇØ Áö¹èµÈ´Ù. ¿¹¸¦ µé¸é, ¾î¶² ¿ì¼ºÇüÁúÀ» Áö¹èÇÏ´Â À¯ÀüÀÚ¸¦ A¶ó Çϰí, ±×°Í¿¡ ´ëÀÀÇÏ´Â ¿¼ºÀ¯ÀüÀÚ¸¦ a¶ó°í Çϸé, ¿ì¼ºÀ¯ÀüÀÚ¸¦ °¡Áø ¾î¹öÀÌ(AA)¿Í ¿¼ºÀ¯ÀüÀÚ¸¦ °¡Áø ¾î¹öÀÌ(aa)ÀÇ ±³¹è¿¡ ÀÇÇÏ¿© »ý±ä ÀâÁ¾ Á¦1´ë(F1)´Â Aa°¡ µÇ¾î ¿ì¼ºÇüÁúÀ» ³ªÅ¸³½´Ù. Aa À¯ÀüÀÚ¸¦ °¡Áø F1³¢¸®¸¦ ±³¹èÇϸé ÀâÁ¾ Á¦2´ë(F2)¿¡¼´Â AA:Aa:aa°¡ 1:2:1ÀÇ ºñÀ²·Î ºÐ¸®µÇ¾î ¿¼ºÇüÁúÀº F2´ë¿¡ 1/3ÀÇ ºñÀ²·Î »ý±ä´Ù. ¿ì¼º-¿¼ºÀ̶õ ÇüÁúÀÇ °¡Ä¡ ¿ì¿À» ¸»ÇÏ´Â °ÍÀÌ ¾Æ´Ï´Ù. ¿¼ºÀÌ µÚ¶³¾îÁ³´Ù´Â ÀλóÀ» Áشٰí ÇÏ¿© ¿¼ºÀ» ÀἺÀ¸·Î, ¿ì¼ºÀ» Çö¼ºÀ¸·Î ÇÏÀÚ°í ÁÖÀåÇÏ´Â ÇÐÀÚµµ ÀÖ´Ù. |
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| ¿µ¹® | kidney stones | ÇÑ±Û | ÄáÆÏµ¹, ÄáÆÏ°á¼® |
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| ¼³¸í | ÄáÆÏÀÇ ±ò¶§±â ¶Ç´Â ¼úÀÜ¿¡ Çü¼ºµÈ µ¹À» ¸»ÇÏ¸ç ¿äÀú·ù, °¨¿°, ¿ä·® °¨¼Ò µîÀÌ ÀÖÀ» ¶§ Àß ³ªÅ¸³ª´Â °ÍÀ¸·Î ¾Ë·ÁÁ® ÀÖ´Ù. Áõ»óÀº ¿·±¸¸®³ª Ãøº¹ºÎ¿¡ °©Àڱ⠻ý±â´Â ½ÉÇÑ µ¿Åë, À°¾ÈÀûÀ̳ª Çö¹Ì°æÀû Ç÷´¢, ôÃß°¥ºñ»À°¢ ¾ÐÅëÀÌ ÀÖÀ» ¼ö ÀÖÀ¸³ª °æ¿ì¿¡ µû¶ó Áõ»óÀÌ ¾øÀÌ ¿ì¿¬ÇÏ°Ô ¹ß°ßµÇ´Â ¼öµµ ÀÖ´Ù. Áø´ÜÀº ¿ä°Ë»ç³ª ¿ä¹è¾ç°Ë»ç, Ç÷¾×°Ë»ç, ¹æ»ç¼±°Ë»ç¸¦ ÀÌ¿ëÇØ¼ Çϸç Ä¡·á¹æÄ§Àº ±× µ¹ÀÇ È°¼ºµµ¿¡ µû¶ó ´Ù·®ÀÇ ¼öºÐ ¼·Ã볪 ÁøÅëÁ¦¸¦ »ç¿ëÇØ¼ ÀÚ¿¬¹èÃâÀ» À¯µµÇϰųª ü¿ÜÃæ°ÝÆÄ ¼â¼®¼ú, ³»ºñ´¢±â°úÀû ¼â¼®¼ú, ¼ö¼ú¿ä¹ý, ³»°úÀû ¿ä¹ýÀ» »ç¿ëÇÑ´Ù. µ¹ÀÇ È°¼ºµµ¶õ µ¿Åë, Æó»öÇö»ó, µ¹ÀÇ Å©±â Áõ°¡ ¿©ºÎ, »õ·Î¿î µ¹ÀÇ ¹ß»ý¿¡ ÀÇÇÏ¿© °áÁ¤µÇ¾îÁø´Ù. |
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| ¿µ¹® | kidney | ÇÑ±Û | ÄáÆÏ, ½ÅÀå |
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| ¼³¸í | Èĺ¹º®ÀÇ Á¦ 11µî»À¿¡¼ Á¦ 2Ç㸮»À ³ôÀÌÀÇ º¹¸· ¹Ù±ù¿¡ ÀÖ´Â °³¶Äá ÇüÅÂÀÇ Àå±â·Î¼ ¼¶À¯¼º ÇǸ·°ú Áö¹æ Á¶Á÷À¸·Î ½Î¿© ÀÖ´Ù. ¹«°Ô´Â ¾à 130gÀÌ¸ç ½ÇÁúÀº °ÑÁú°ú ¼ÓÁú·Î ³ª´µ¾î Áø´Ù. |
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| ¿µ¹® | infectious disease | ÇÑ±Û | °¨¿°º´ |
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| ¼³¸í | ¹ÙÀÌ·¯½º·ÎºÎÅÍ ±â»ýÃæ Å©±â±îÁöÀÇ »ý¹°À» ¿øÀÎÀ¸·Î ÇÏ´Â º´. ¿øÀÎÀº Á¢ÃËÀü¿°¼ºÀ̸ç, º´¿ø¿¡¼ °¨¿°µÇ´Â °æ¿ìµµ ÀÖ´Ù. °¨¿°À» ¿øÀαտ¡ µû¶ó ºÐ·ùÇÏ¸é ¹ÙÀÌ·¯½º, ¼¼±Õ, Ŭ¶ó¹Ìµð¾Æ, ¸®ÄÏÂ÷, ¹ÌÄÚ¹ÚÅ׸®¿ò, °õÆÎÀÌ, ¿øÃæ, À±Ãæ, ¿ÜºÎ±â»ýÃæ °¨¿°À¸·Î ³ª´ ¼ö ÀÖ´Ù. |
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| ¿µ¹® | hypertensive heart disease | ÇÑ±Û | °íÇ÷¾Ð½ÉÀ庴 |
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| ¼³¸í | °íÇ÷¾Ð¿¡ ÀÇÇØ¼ »ý±â´Â ½ÉÀ庴. °íÇ÷¾Ð½ÉÀ庴À̶ó´Â Áø´ÜÀ» ºÙÀ̱â À§Çؼ´Â ÃÖ¼ÒÇÑ ´ÙÀ½°ú °°Àº Á¶°ÇÀÌ ºÎÇյǾî¾ß Çϴµ¥, ù° ½ÉÀåÇ÷°ü°è¿¡ ½ÉÀ庴À» À¯¹ßÇÒ ¼ö ÀÖÀ» ¸¸ÇÑ ´Ù¸¥ º´º¯ÀÌ ¾øÀÌ ÁÂ½É½Ç ºñ´ë°¡ ÀÖ¾î¾ß Çϸç, µÑ° °íÇ÷¾ÐÀ» ¾Î¾Ò´Ù´Â º´·ÂÀÌ ÀÖ¾î¾ß ÇÑ´Ù. ÁÖ·Î °íÇ÷¾Ð¿¡ ÀÇÇÑ ½ÉÀ庴Àº Ãʱ⿡´Â Á½ɽÇÀÌ ºñÈĶó´Â °ÍÀ¸·Î Ư¡µÇ¾îÁø´Ù. Áï Ç÷¾ÐÀÌ ³ôÀ¸¹Ç·Î Ç÷¾×À» ¼øÈ¯½Ã۱â À§Çؼ´Â ±×¸¸Å ½ÉÀåÀÇ Ç÷¾×À» º¸³»´Â ÈûÀÌ ÁÁ¾Æ¾ß ÇÑ´Ù. ±× ÈûÀ» ¾ò±âÀ§Çؼ´Â ½É±ÙÀÇ ºñÈİ¡ ÇÊ¿ä·Î ÇÏ¿© ÁÂ½É½Ç ±ÙÀ°ÀÇ ºñÈİ¡ »ý±ä´Ù. ±×¸®°í °íÇ÷¾ÐÀÌ Áö¼ÓÀÌ µÉ °æ¿ì¿¡´Â °á±¹ ½ÉÀåÀÌ Á¦ ±¸½ÇÀ» ÇÏÁö ¸øÇÏ°í ÆßÇÁ·Î¼ÀÇ ±â´ÉÀ» ÀÒ¾î¹ö¸®°Ô µÇ¾î ½ÉÀå±â´É»ó½Ç¿¡ ºüÁö°Ô µÈ´Ù. |
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| ARPKD | autosomal recessive polycystic kidney disease |
|---|---|
| ARPD | autosomal recessive polycystic disease |
| AR | 1) Aortic Regurgitation = AI Echo¼Ò°ß &... |
| ADPKD | autosomal dominant polycystic kidney disease |
| AD | accident dispensary; acetate dialysis; active disease; acute dermatomyositis; addict, addiction; ade... |
| ARPKD | Autosomal recessive polycystic kidney disease |
|---|---|
| ADPKD | Autosomal Dominant Polycystic Kidney Disease |
| AR | Autosomal Recessive |
| AR-JP | Autosomal recessive juvenile parkinsonism |
| ARRP | Autosomal recessive retinitis pigmentosa |
| kidney, polycystic, autosomal recessive | Rare genetic disorder with autosomal recessive inheritance characterised by multiple cysts in both kidneys and associated hepatic lesions. Serious manifestations are usually present at birth and there is high perinatal mortality. (12 Dec 1998) |
|---|---|
| kidney, polycystic, autosomal dominant | A genetic disorder with autosomal dominant inheritance characterised by multiple cysts in both kidneys and progressive deterioration of renal function. It is usually caused by a mutant gene at the pkd1 locus on the short arm of chromosome 16, though mutations elsewhere in the genome can also cause the disease. The age of onset of symptoms varies widely. (12 Dec 1998) |
| autosomal recessive | <genetics> Mutation carried on an autosome that is deleterious only in homozygotes. (02 Jan 1998) |
| recessive, autosomal | A gene on a nonsex chromosome (an autosome) that expresses itself only when there is no different gene present at that locus (spot on the chromosome). For example, cystic fibrosis (cf) is an autosomal recessive disorder. A cf child has the cf gene on both chromosome 7's (and so is said to be homozygous for cf). (12 Dec 1998) |
| polycystic kidney disease | <disease> A rare inherited condition in which the kidney are composed of multiple cysts. Kidney cysts are associated with an increased incidence of cerebral aneurysm. Symptoms usually appear later (if they do at all) and include blood in the urine, flank pain, excessive urination at night and abdominal pain. Individuals may also have elevated blood pressure. Chronic (end-stage renal disease) renal failure is the most common result in the 5th to 6th decades of life. Incidence: 1 in 5,000. (02 Jan 1998) |
| disease, polycystic kidney | Genetic (inherited) disorders characterised by the development of innumerable cysts in the kidneys filled with fluid that replace much of the mass of the kidneys and reduce kidney function leading to kidney failure. (12 Dec 1998) |
| polycystic kidney | A progressive disease characterised by formation of multiple cysts of varying size scattered diffusely throughout both kidney's, resulting in compression and destruction of kidney parenchyma, usually with hypertension, gross haematuria, and uraemia; there are two major types: 1) with onset in infancy or early childhood, usually with autosomal recessive inheritance; 2) with onset in adulthood, with autosomal dominant inheritance. Synonym: polycystic disease of kidneys. (05 Mar 2000) |
| kidney, polycystic | Kidney whose tissue is displaced by a large number of tightly packed cysts so that cystic volume predominates over the solid parts to a considerable degree. (12 Dec 1998) |
| polycystic disease of kidneys | A progressive disease characterised by formation of multiple cysts of varying size scattered diffusely throughout both kidney's, resulting in compression and destruction of kidney parenchyma, usually with hypertension, gross haematuria, and uraemia; there are two major types: 1) with onset in infancy or early childhood, usually with autosomal recessive inheritance; 2) with onset in adulthood, with autosomal dominant inheritance. Synonym: polycystic disease of kidneys. (05 Mar 2000) |
| polycystic liver disease | Gradual cystic dilation of intralobular bile ducts (Meyenburg's complexes) that fail to involute in embryologic development of the liver; frequently associated with bilateral congenital polycystic kidneys and occasionally with cystic involvement of the pancreas, lungs, and other organs. Synonym: polycystic liver disease. (05 Mar 2000) |
| polycystic ovarian disease | <disease> A condition found among women who do not ovulate, characterised by multiple ovarian cysts and increased androgen production. (09 Oct 1997) |
| disease, ovarian, polycystic | See Disease, polycystic ovarian. (12 Dec 1998) |
| disease, polycystic ovarian | An hormonal problem that causes women to have a variety of symptoms including irregular or no periods, acne, obesity and excessive hair growth. Women with PCO are at a higher risk for uterine cancer (endometrial cancer), diabetes, high blood pressure, and heart disease. With proper treatment, risks can be minimised. PCO is also known as Stein-Leventhal syndrome. (12 Dec 1998) |
| autosomal | Pertaining to an autosome. (05 Mar 2000) |
| autosomal dominant | <genetics> Requires only one affected parent have the trait to pass it to offspring. (02 Jan 1998) |
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