| 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. |
||
| 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 |
|---|---|
| Fra(X) | Fragile X |
| FMR1 | Fragile X Mental Retardation gene 1 |
| FMR-1 | Fragile X Mental Retardation-1 |
| FMRP | Fragile X mental retardation 1 protein |
| 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) |
|---|
| 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) |
|---|---|
| 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) |
| 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) |
| acrocentric chromosome | A chromosome with the centromere placed very close to one end so that the short arm is very small, often with a satellite. (05 Mar 2000) |
| balanced chromosome | <genetics> A chromosome which is unable to pair with its homologue and participate in homologus recombination during meiosis because it contains several inversion mutations (that is, has segments which have become flip-flopped). (09 Oct 1997) |
| B chromosome | <genetics> Small acentric chromosome, part of the normal genome of some races and species of plants. (18 Nov 1997) |
| bivalent chromosome | A pair of chromosome's temporarily united. (05 Mar 2000) |
| male chromosome complement | The large majority of males have a 46, xy chromosome complement (46 chromosomes including an x and a y chromosome). A minority of males have other chromosome constitutions such as 47,xxy (47 chromosomes including two x chromosomes and a y chromosome) and 47,xyy (47 chromosomes including an x and two y chromosomes). (12 Dec 1998) |
| marker chromosome | An abnormal chromosome that is distinctive in appearance but not fully identified. For example, the fragile x chromosome was once called the marker x. (12 Dec 1998) |
| p arm of a chromosome | The short arm of a chromosome (from the french petit meaning small). All human chromosomes have 2 arms: the p and q arms. (12 Dec 1998) |
| giant chromosome | <cell biology> Giant chromosomes produced by the successive replication of homologous pairs of chromosomes, joined together (synapsed) without chromosome separation or nuclear division. They thus consist of many up to 1000) identical chromosomes (strictly chromatids) running parallel and in strict register. The chromosomes remain visible during interphase and are found in some ciliates, ovule cells in angiosperms and in larval Dipteran tissue. The best known polytene chromosomes are those of the salivary gland of the larvae of Drosophila melanogaster which appear as a series of dense bands interspersed by light interbands, in a pattern characteristic for each chromosome. The bands, of which there are about 5,000 in Drosophila melanogaster, contain most of the DNA (ca 95%) of the chromosomes and each band roughly represents one gene. The banding pattern of polytene chromosomes provides a visible map to compare with the linkage map determined by genetic studies. Some segments of polytene chromosome show chromosome puffs, areas of high transcription. (18 Nov 1997) |
| Giemsa chromosome banding stain | <technique> A unique chromosome staining technique, used in human cytogenetics to identify individual chromosomes, which produces characteristic bands. It utilises acetic acid fixation, air drying, denaturing chromosomes mildly with proteolytic enzymes, salts, heat, detergents, or urea, and finally Giemsa stain; chromosome bands appear similar to those fluorochromed by Q-banding stain. Synonym: Giemsa chromosome banding stain. (05 Mar 2000) |
제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
|---|
제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
|---|