| 영문 | Down syndrome | 한글 | 다운증후군 |
|---|---|---|---|
| 설명 | 사람의 46개 염색체 중 제 21번 염색체의 수가 1개 더 많아지므로써 나타나는 병이다. 환자의 생김새가 마치 몽고 사람과 닮았다 하여 일명 몽고증(mongolism)이라고 하였으나 잘못된 이름이다. 이 병은 반드시 21번 염색체가 3개가 되는 경우이외에도 21번 염색체의 일부분이 다른 염색체의 일부분과 교환이 되는 translocation형 등의 다른 염색체이상에서도 볼 수가 있다. 발생 빈도는 출생아 700~1000명중 1명 꼴로 나타나며, 염색체 이상병 중에 가장 많은 것으로 알려져 있다. 이 병의 발생빈도는 산모의 출산연령과 밀접한 관계가 있어, 35세 이후가 되면 기하 급수적으로 이 질환자의 출산수가 증가한다. 일반적으로 이 질환에 있어서 약 3분의 1은 모친의 출산연령에 의존하지 않고, 나머지 약 3분의 2는 모친의 연령과 직접 관련이 있는 것으로 보고 있다. 진단은 특징적인 생김새, 즉 몽고 사람같이 눈꼬리가 위로 치켜져 있고 눈거풀이 두꺼우며 콧등이 낮은 특징적인 얼굴 모습, 또한 근육의 긴장도가 저하되고 젖을 빠는 힘과 울음 소리가 약하며 손바닥의 좌우를 가르는 한줄의 손금(원숭이와 같은 형태이다) 등의 특징적인 소견에 의해 보조진단을 하고 최종적으로 염색체 분석에 의해 확진을 한다. 이 다운증후군의 환자는 대개 지능이 저하되어 있고, 여러 가지 종류의 선천성 심장기형을 많이 동반하고 있다. |
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| 영문 | mutation | 한글 | 돌연변이 |
|---|---|---|---|
| 설명 | 세포의 dna 자체의 변이에 의해 일어나는 세포변이를 말한다. 이러한 경우 돌연변이로 일어난 세포는 그 이후 딸세포(daughter cell)에서도 그 변이가 여전히 유지되므로 종(species)의 변화나, 혹은 세포의 악성변환(malignant transformation)에 관여한다. |
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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... |
| DABP | D site albumin promoter binding protein |
| ESP | early systolic paradox; echo spacing; effective sensory projection; effective systolic pressure; end... |
| BDP | break down product |
|---|---|
| dra | Down Regulated in Adenoma |
| DS | Down Syndrome |
| HDT | Head Down Tilt |
| SDH | Step-down heating |
| down promoter mutation | <molecular biology> A mutation (a change in base pair sequence) in a promoter region, this results in lower gene expression (less transcription of the gene occurs). (09 Oct 1997) |
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| up promoter mutation | A mutation that increases the frequency of initiation of transcription. (05 Mar 2000) |
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| constituative promoter | An unregulated promoter that allows for continual transcription of itsassociated gene. (09 Oct 1997) |
| promoter | <molecular biology> A region of DNA to which RNA polymerase binds before initiating the transcription of DNA into RNA. The nucleotide at which transcription starts is designated +1 and nucleotides are numbered from this with negative numbers indicating upstream nucleotides and positive downstream nucleotides. most bacterial promoters contain two consensus sequences that seem to be essential for the binding of the polymerase. The first, the Pribnow box, is at about 10 and has the consensus sequence 5' TATAAT 3'. The second, the 35 sequence, is centred about 35 and has the consensus sequence 5' TTGACA 3'. most factors that regulate gene transcription do so by binding at or near the promoter and affecting the initiation of transcription. Much less is known about eukaryote promoters, each of the three RNA polymerases has a different promoter. RNA polymerase I recognises a single promoter for the precursor of rRNA. RNA polymerase II, that transcribes all genes coding for polypeptides, recognises many thousands of promoters. most have the Goldberg Hogness or TATA box that is centred around position 25 and has the consensus sequence 5' TATAAAA 3'. Several promoters have a CAAT box around 90 with the consensus sequence 5' GGCCAATCT 3'. There is increasing evidence that all promoters for housekeeping genes contain multiple copies of a GC rich element that includes the sequence 5' GGGCGG 3'. Transcription by polymerase II is also affected by more distant elements known as enhancers. RNA polymerase III synthesises 5s ribosomal RNA, all tRNAs and a number of small RNAs. The promoter for RNA polymerase III is located within the gene either as a single sequence, as in the 5s RNA gene or as two blocks, as in all tRNA genes. (13 Nov 1997) |
| promoter insertion | <molecular biology> Activation of a gene by the nearby integration of a virus. The long-terminal repeat acts as a promoter for the host gene. A form of insertional mutagenesis. (18 Nov 1997) |
| promoter regions | <genetics> DNA sequences which are recognised (directly or indirectly) and bound by a DNA-dependent RNA polymerase during the initiation of transcription. Highly conserved sequences within the promoter include the pribnow box in bacteria and the tata box in eukaryotes. (12 Dec 1998) |
| tumour promoter | <molecular biology, oncology> Agent that in classical studies of carcinogenesis in rodent skin was able to increase the sensitivity of tumour formation by a previously applied primary carcinogen, but was unable to induce tumours when used alone. Important example was croton oil, active ingredients of which are now believed to be phorbol esters. These are believed to act as analogues of diacylglycerols and may activate protein kinase C. Strictly speaking, not the same as a co carcinogen, which is defined as being active when administered at the same time. Tumour promoters generally are carcinogens when tested more stringently. (18 Nov 1997) |
| bearing down | Expulsive effort of a parturient woman in the second stage of labour. (05 Mar 2000) |
| bearing-down pain | A uterine contraction accompanied by straining and tenesmus; usually appearing in the second stage of labour. (05 Mar 2000) |
| reflex, let down | The let down reflex of the mother is an involuntary reflex during breastfeeding which causes the milk to flow freely. (12 Dec 1998) |
| milk let-down reflex | Release of milk from the breast following tactile stimulation of the nipple; the afferent path is postulated to exist from the nipple to the hypothalamus; the efferent limb is represented by the neurohypophysial release of oxytocin into the systemic circulation; contraction of myoepithelial elements within the breast, caused by oxytocin, moves milk into the collecting ducts and toward the nipple. Synonym: let-down reflex, milk let-down reflex. (05 Mar 2000) |
| cone down | To narrow a beam of X-rays to a region of interest using a collimator or cone; colloq., to delimit one's attention or activities. (05 Mar 2000) |
| head-down tilt | Posture while lying with the head lower than the rest of the body. Extended time in this position is associated with temporary physiologic disturbances. (12 Dec 1998) |
| syndrome, down | A common disorder due to a chromosome abnormality and specfically due to an extra chromosome number 21 (trisomy 21). Down syndrome includes mental retardation, a characteristic face, and multiple malformations. It is associated with a major risk for heart problems, a lesser risk of duodenal atresia (part of the intestines not developed), and a minor but still significant risk of acute leukaemia. The name down syndrome comes from the 19th century english doctor langdon down, a misnomer since he was curiously enough not the first person to describe the condition and, in great error, attributed the condition to a reversion to the mongoloid race. Hence, the old name mongolism, now considered slang. (12 Dec 1998) |
| down | <dermatology, zoology> Fine, soft feathers, soft, fine hair. (04 Mar 1998) |
| Down, John Langdon | <person> English physician, 1828-1896. See: Down's syndrome. (05 Mar 2000) |
제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
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제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
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