| ¿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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| FAP | familial adenomatous polyposis; familial amyloid polyneuropathy; fatty acid polyunsaturated; fatty a... |
|---|---|
| APC | acetylsalicylic acid, phenacetin, and caffeine; activated protein C; adenoidal-pharyngeal-conjunctiv... |
| AR | 1) Aortic Regurgitation = AI Echo¼Ò°ß &... |
| AR | absolute risk; accounts receivable; achievement ratio; actinic reticuloid [syndrome]; active resista... |
| AROA | autosomal recessive ocular albinism |
| FAP | Familial adenomatous polyposis coli |
|---|---|
| AR | Autosomal Recessive |
| AR-JP | Autosomal recessive juvenile parkinsonism |
| ARPKD | Autosomal recessive polycystic kidney disease |
| ARRP | Autosomal recessive retinitis pigmentosa |
| 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) |
| 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) |
| adenomatous polyposis coli | An autosomal dominant polyposis syndrome in which the colon contains few to thousands of adenomatous polyps, often occurring by age 15 to 25. (12 Dec 1998) |
| familial adenomatous polyposis | <gastroenterology> Genetic disease with numerous precancerous polyps in the colon and rectum. Also called familial polyposis. (12 Dec 1998) |
| familial polyposis coli | <gastroenterology, oncology> A inherited, disorder where there are multiple adenomatous polyps (up to several thousand) in the colon. Malignant degeneration of the polyps (to colon carcinoma) occurs in virtually 100% by age 40. Inheritance: autosomal dominant. (27 Sep 1997) |
| adenomatous | Relating to an adenoma, and to some types of glandular hyperplasia. (05 Mar 2000) |
| adenomatous colon polyps | <radiology> Probability of malignancy by size and type Size (cm) less than 1 1-2 greater than 2 --------------------------- tubular 1% 10% 34% mixed (TV) 4% 9% 45% villous 10% 10% 54%, most colon polyps (90%) are hyperplastic (size less than 5 mm) (12 Dec 1998) |
| adenomatous goiter | An enlargement of the thyroid gland due to the growth of one or more encapsulated adenomas or multiple nonencapsulated colloid nodules within its substance. (05 Mar 2000) |
| adenomatous polyp | A polyp that consists of benign neoplastic tissue derived from glandular epithelium. Synonym: cellular polyp, polypoid adenoma. (05 Mar 2000) |
| adenomatous polyps | Benign neoplasms derived from glandular epithelium. (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) |
| autosomal gene | A gene located on any chromosome other than the sex chromosomes (X or Y). (05 Mar 2000) |
| 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) |
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