| 영문 | sex chromosome | 한글 | 성염색체 |
|---|---|---|---|
| 설명 | 암수의 성을 결정하는 데 중요한 구실을 하는 염색체. 이것에 대하여 보통의 염색체를 보통염색체라고 한다. 암수의 구별이 있는 생물에서는 암수에 따라 다른 형과 수를 나타내는 염색체이며, 보통염색체에 비해 염색성이나 행동에서 차이가 있다. 특히 동물의 성염색체는 그런 경향이 강하다. 휴지기 및 핵분열 전기에 뚜렷한 이상응축을 나타내며 감수분열 때는 다른 염색체보다 먼저 앞서거나 끌려가는 행동을 보여준다. |
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| 영문 | chromosome | 한글 | 염색체 |
|---|---|---|---|
| 설명 | 유전정보를 담고 있는 DNA가 모여서 이루는 구조물로 핵속에 위치한다. 세포가 분열할 때 이것을 더욱 뚜렷이 관찰할 수가 있다. 이것은 사람처럼 고등생물체에서 너무나 많은 정보를 담고 있어, 엄청난 길이(사람에 있어서 전 DNA를 길이로 따지면 약 2m가 된다)가 된 DNA를 작은 핵이란 공간속에 보관하기 위해서 만들어진 구조이다. 이 염색체의 수는 생물의 종에 따라 다르며 사람의 경우는 46개이다. |
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| 영문 | chromosome abnormality | 한글 | 염색체이상 |
|---|---|---|---|
| 설명 | 염색체의 수나 구조의 이상. 이상이 생긴 세포나 개체는 유전적인 이상을 일으켜 사람의 경우, 다운 증후군-터너 증후군 따위의 여러 가지 형태로 나타난다. |
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| fra(X) | fragile X chromosome, fragile X syndrome |
|---|---|
| FRAX | fragile [chromosome] X |
| Xp | paternal chromosome X; short arm of chromosome X |
| AFRAX | autism-fragile X [syndrome] |
| FHIT | fragile histidine triad [gene] |
| FS | Fragile Sites |
|---|---|
| AEBS | Antiestrogen binding sites |
| DHS | DNAse I hypersensitive sites |
| EBS | ETS binding sites |
| HS | Hypersensitive sites |
| chromosome fragile sites | Heritable sensitive regions of chromosomes which show up in vitro as non-staining bands. They are associated with chromosome breakage and other aberrations, and, when located on sex chromosomes, they produce phenotypic abnormalities. No abnormal phenotype has been definitely identified with autosomal fragile sites, but some rare autosomal recessive disorders may be due to homozygosity for fragile sites. Fragile sites are designated by the letters "fra" followed by the designation for the specific chromosome and locus. (12 Dec 1998) |
|---|
| fragile x chromosome | X chromosome with a fragile site associated with a frequent form of mental retardation. The fragile X chromosome was first sighted by Herbert A. Lubs in 1969. The fragile X is also called FRAXA (the second A signifies it was the first FRAgile site found on the X chromosome). It is due a trinucleotide repeat (a recurring motif of 3 bases) in the DNA at that spot. (12 Dec 1998) |
|---|---|
| syndrome, fragile x | The most common heritable form of mental retardation. Fragile x syndrome is due to mutation (changes) at the fragile x site and so perforce is x-linked (carried on the x chromosome). Although it is usually more severe in males than females, the syndrome is due to a dynamic mutation (a trinucleotide repeat) that can change in length and hence in severity from generation to generation, from person to person, and even within a given person. The fragile x syndrome is also known as the martin-bell syndrome in honor of their discovery of it in 1943. (12 Dec 1998) |
| fragile site | Places on chromosomes that tend to break more often than other places. These places also tend to be where chromosomal translocations (a type of chromosomal mutation) occur. (09 Oct 1997) |
| fragile X syndrome | <syndrome> most frequent cause of mental retardation. There is an expanded trinucleotide repeat CGG in the fra(X) gene. There is usually a constricted section on the long arm of the X chromosome. After puberty these patients often exhibit large prominent ears, long narrow face, coarse facial features and macroorchidism. Mental retardation in males is characteristic although the manifestations of the syndrome are highly variable. A preponderance of males are affected but it also affects 30% of carrier females and about 20% of obligate carrier males are not affected. The complexity in the inheritance pattern comes from the fact that these obligate carrier males (transmitting males) pass on the mutation to all their daughters (unaffected). most of the sons of carrier females with the mutation are mentally retarded but of their daughters, only 1/3 are retarded while 1/3 are borderline retarded and 1/3 are normal. Penetrance of the disease is variable within families and among siblings. Another unique characteristic of this syndrome, which is referred to as the Sherman Paradox is the fact that the risk of a family member being abnormal when gene-positive depends on the position of the proband in the pedigree. Sons of phenotypically normal but transmitting males have no risk of being mentally affected, but grandsons and great-grandsons of the transmitting a male have a much higher risk of mental retardation (40% and 50%, respectively). On the other hand, if the carrier female expresses the mental handicap her sons have a 50% risk of mental retardation. The classical method of confirming diagnosis is culture of lymphocytes in a folate-free medium (or supplemented with trimethoprim, methotrexate or FUdR) and microscopic detection of the fragile site (Xq27.3). Expression is seen in less than 50% of the cells of affected individuals but the test is not applicable to carrier detection as there is a high false negative rate (60%). The fragile-X gene (FMR-1), which contains tandemly repeated trinucleotide sequences (CGG repeats) on its 5' end, can be detected with PCR or Southern blot techniques. Normal controls show 6-50 CGG repeats, whereas mutation in affected males or heterozygous females can contain as many as 1,000 CGG repeat units. The test is indicated for individuals with compatible mental retardation, developmental delays or autism, or for those that have a family history of the syndrome. It is also indicated for prenatal detection in offspring of carrier females. Inheritance: sex-linked. Incidence: 1 in 1200 males and 1 in 2500 females. (17 Dec 1997) |
| attachment sites | <microbiology, molecular biology> Particular loci in both bacterial and phage DNA molecules at which phage DNA is integrated into the bacterial DNA by recombination between these sites. (12 Dec 1998) |
| binding sites | The reactive parts of a macromolecule that directly participate in its specific combination with another molecule. (12 Dec 1998) |
| binding sites, antibody | Local surface sites on antibodies which react with antigen determinant sites on antigens. They are formed from parts of the variable regions of the fab fragment of the immunoglobulin. (12 Dec 1998) |
| contact sites A | Developmentally regulated adhesion sites that appear on the ends of aggregation competent Dictyostelium discoideum at the stage when the starved cells begin to come together to form the grex. Originally detected by the use of Fab fragments of polyclonal antibodies, raised against aggregation competent cells and adsorbed against vegetative cells, to block adhesion in EDTA containing medium. (Cell cell adhesion mediated by contact sites A, unlike that mediated by contact sites B, is not divalent cation sensitive). The fact that a mutant deficient in csA behaves perfectly normally in culture is puzzling. (18 Nov 1997) |
| contact sites B | Developmentally regulated adhesion sites that appear on the ends of aggregation competent Dictyostelium discoideum at the stage when the starved cells begin to come together to form the grex. Originally detected by the use of Fab fragments of polyclonal antibodies, raised against aggregation competent cells and adsorbed against vegetative cells, to block adhesion in EDTA containing medium. (Cell cell adhesion mediated by contact sites A, unlike that mediated by contact sites B, is not divalent cation sensitive). The fact that a mutant deficient in csA behaves perfectly normally in culture is puzzling. (18 Nov 1997) |
| crohn disease: sites | <radiology> Oesophagus: rare, stomach (2-20%): granulomatous gastritis, pseudo-post Bilroth-I appearance, ramshorn sign, antral-duodenal fistula, duodenum (4-10%): almost always associated with gastric involvement, bulb and proximal half of duodenum, small bowel (80%): regional enteritis, terminal ileum (alone/in combination): 95%, jejunum/ileum: 15%, commonly associated with medial caecal defect, colon (22-55%): granulomatous colitis, particularly on the right side, transverse stripe sign: contrast within coarse mucosal folds, rectum (35-50%) see: Crohn disease (12 Dec 1998) |
| sequence tagged sites | Short, tagged tracts of DNA sequence that are used as landmarks in genome mapping. In most instances, 200 to 500 base pairs of sequence define a sequence tagged site (sts) that is operationally unique in the human genome (i.e., can be specifically detected by the polymerase chain reaction in the presence of all other genomic sequences). The overwhelming advantage of stss over mapping landmarks defined in other ways is that the means of testing for the presence of a particular sts can be completely described as information in a database. (12 Dec 1998) |
| sequence-tagged sites | Short stretches of DNA sequences that can be detected by use of the polymerase chain reaction. (05 Mar 2000) |
| immunologically privileged sites | Sites where allografts are not readily rejected, probably because these particular areas have poor lymphatic drainage. (05 Mar 2000) |
| accessory chromosome | A chromosome existing without its normal homologous chromosome; at the reduction division of gametogenesis an accessory chromosome is likely to be included in one daughter cell and not in the other, but may be lost completely by lagging behind on the equatorial plate. Synonym: monosome, odd chromosome, unpaired allosome, unpaired chromosome. (05 Mar 2000) |
| acentric chromosome | A fragment of a chromosome lacking a centromere and unable to attach to the mitotic spindle, therefore unable to take part in the division of a nucleus and randomly distributed in daughter cells. Synonym: acentric fragment. (05 Mar 2000) |
Synonyms : Chromosome Fragile Site, Fragile Site, Chromosome, Site, Chromosome Fragile, Sites, Chromosome Fragile
제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
|---|
제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
|---|