| ¿µ¹® | mutation | ÇÑ±Û | µ¹¿¬º¯ÀÌ |
|---|---|---|---|
| ¼³¸í | ¼¼Æ÷ÀÇ dna ÀÚüÀÇ º¯ÀÌ¿¡ ÀÇÇØ ÀϾ´Â ¼¼Æ÷º¯À̸¦ ¸»ÇÑ´Ù. ÀÌ·¯ÇÑ °æ¿ì µ¹¿¬º¯ÀÌ·Î ÀÏ¾î³ ¼¼Æ÷´Â ±× ÀÌÈÄ µþ¼¼Æ÷(daughter cell)¿¡¼µµ ±× º¯À̰¡ ¿©ÀüÈ÷ À¯ÁöµÇ¹Ç·Î Á¾(species)ÀÇ º¯È³ª, ȤÀº ¼¼Æ÷ÀÇ ¾Ç¼ºº¯È¯(malignant transformation)¿¡ °ü¿©ÇÑ´Ù. |
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| ¿µ¹® | recessive | ÇÑ±Û | ¿¼º |
|---|---|---|---|
| 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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| ARMS | adverse reaction monitoring system; amplification refractory mutation system |
|---|---|
| MF | magnetic field; meat free; medium frequency; megafarad; membrane filler; merthiolate-formaldehyde [s... |
| TFM | testicular feminization male; testicular feminization mutation; total fluid movement; transmission e... |
| AR | 1) Aortic Regurgitation = AI Echo¼Ò°ß &... |
| AR | absolute risk; accounts receivable; achievement ratio; actinic reticuloid [syndrome]; active resista... |
| ARMS | Amplification Refractory Mutation System |
|---|---|
| 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) |
|---|---|
| genes, recessive | Genes that are reflected in the phenotype only in the homozygous state. (12 Dec 1998) |
| recessive | <genetics> An allele or mutation that is only expressed phenotypically when it is present in the homozygous form. In the heterozygote it is obscured by dominant alleles. (18 Nov 1997) |
| 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) |
| recessive character | An inherited character determined by an allele in homozygous state only. See: dominance of traits. (05 Mar 2000) |
| recessive gene | A gene that is expressed onlywhen it is present in two copies or if theother copy is missing. (09 Oct 1997) |
| recessive inheritance | dominance of traits |
| recessive oncogene | <molecular biology> A single copy of this gene issufficient to suppress cell proliferation, the loss of both copies of the gene contributes to cancer formation. (09 Oct 1997) |
| recessive trait | See: dominance of traits. (05 Mar 2000) |
| recessive, x-linked | A gene on the X chromosome that expresses itself only when there is no different gene present at that locus (spot on the chromosome). For example, duchenne muscular dystrophy (dmd) is an x-linked recessive disorder. A dmd boy has the dmd gene on his sole x chromosome (and so is said to be hemizgous for dmd). Although it is much rarer, a girl can have dmd (by several different means as, for example, if she has the dmd gene on both her x chromosomes and so is homozygous for dmd). (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) |
| acquired mutation | A change in a gene or chromosome that occurs in a single cell after the conception of the individual. That change is then passed along to all cells descended from that cell. Acquired mutations are involved in the development of cancer. (12 Dec 1998) |
| addition-deletion mutation | <molecular biology> A type of mutation that results from insertion or deletion of a single nucleotide into, or from, an open reading frame in the normal DNA sequence. Normally, the genetic code is read in the wrong frame, three nucleotides at a time, and the entire sequence downstream of the mutation, is translated into a polypeptide with a garbled amino acid sequence from the mutated codon onwards. These mutations may be induced by certain types of mutagens or may occur spontaneously and usually result in the generation, downstream, of nonsense, chain termination codons. Synonym: addition mutation, addition-deletion mutation, deletion mutation, reading-frameshift mutation. (21 Jun 2000) |
| addition mutation | <molecular biology> A type of mutation that results from insertion or deletion of a single nucleotide into, or from, an open reading frame in the normal DNA sequence. Normally, the genetic code is read in the wrong frame, three nucleotides at a time, and the entire sequence downstream of the mutation, is translated into a polypeptide with a garbled amino acid sequence from the mutated codon onwards. These mutations may be induced by certain types of mutagens or may occur spontaneously and usually result in the generation, downstream, of nonsense, chain termination codons. Synonym: addition mutation, addition-deletion mutation, deletion mutation, reading-frameshift mutation. (21 Jun 2000) |
| amber mutation | <molecular biology> A mutation from a codon which codes for an amino acid into the amber codon UAG, which normally signals that the translation of mRNA into an amino acid chain should stop. The mutation causes the amino acid chain to stop forming before it is actually completed. (09 Oct 1997) |
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