| 영문 | albinism | 한글 | 백피증, 백색증 |
|---|---|---|---|
| 설명 | 선천성으로 멜라닌(피부, 모발, 눈의 색을 나타내는 인간의 색소)의 결핍으로 인하여 모발, 피부 혹은 눈에 색갈이 없어 희게 보이게 되는 병. 멜라닌은 자외선을 흡수하여 피부를 태양광선으로 부터 보호하는 작용이 있기 때문에 이 병과 같이 멜라닌이 없을 경우에 태양 광선에 의한 피부의 손상이 심해지고 피부암과 기타의 암의 위험이 높다. |
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| 영문 | recessive | 한글 | 열성 |
|---|---|---|---|
| 설명 | 대립형질 중 잡종 제1대에서 숨어서 나타나지 않는 형질. 우성에 대응되는 말이다. 나타나는 쪽에 대해 열성이라 하고, 그 형질을 열성형질이라고 한다. 제2대(F2)에서는 열성형질은 분리되어 1/3의 비율로 나타난다. 유전적 대립형질에는 우성과 열성이 있고, 이것들은 우성유전자와 열성유전자에 의해 지배된다. 예를 들면, 어떤 우성형질을 지배하는 유전자를 A라 하고, 그것에 대응하는 열성유전자를 a라고 하면, 우성유전자를 가진 어버이(AA)와 열성유전자를 가진 어버이(aa)의 교배에 의하여 생긴 잡종 제1대(F1)는 Aa가 되어 우성형질을 나타낸다. Aa 유전자를 가진 F1끼리를 교배하면 잡종 제2대(F2)에서는 AA:Aa:aa가 1:2:1의 비율로 분리되어 열성형질은 F2대에 1/3의 비율로 생긴다. 우성-열성이란 형질의 가치 우열을 말하는 것이 아니다. 열성이 뒤떨어졌다는 인상을 준다고 하여 열성을 잠성으로, 우성을 현성으로 하자고 주장하는 학자도 있다. |
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| AROA | autosomal recessive ocular albinism |
|---|---|
| AR | 1) Aortic Regurgitation = AI Echo소견 &... |
| ADFN | albinism-deafness [syndrome]; albinism-deafness syndrome |
| AR | absolute risk; accounts receivable; achievement ratio; actinic reticuloid [syndrome]; active resista... |
| ARPD | autosomal recessive polycystic disease |
| OA1 | Ocular albinism type 1 |
|---|---|
| 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) |
| albinism, ocular | Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is x-linked (nettleship-falls), but an autosomal recessive form also exists. Ocular abnormalities may include reduced pigmentation of the iris, nystagmus, photophobia, strabismus, and decreased visual acuity. (12 Dec 1998) |
| ocular albinism | The absence of pigment chiefly in the iris, choroid, and retinal pigment epithelium with deafness; X-linked inheritance. (05 Mar 2000) |
| albinism | <dermatology> Condition in which no melanin (or other pigment) is present. (05 Feb 1998) |
| albinism, oculocutaneous | Heterogeneous group of autosomal recessive disorders comprising at least four recognised types, all having in common varying degrees of hypopigmentation of the skin, hair, and eyes. The two most common are the tyrosinase-positive and tyrosinase-negative types. (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) |
| rufous albinism | A pigmentary anomaly of blacks, characterised by red or yellow-red hair colour, copper-red skin, and often by dilution of iris pigment. Synonym: rufous albinism. Origin: G. Xanthos, yellowish (05 Mar 2000) |
| cutaneous albinism | An autosomal dominant condition characterised by patterned loss of skin pigment on extremities and ventral thorax; a white forelock is often present, but no ocular findings. (05 Mar 2000) |
| oculocutaneous albinism | An autosomal recessive deficiency of pigment in skin, hair, and eyes; in the tyrosinase negative type, there is an absence of tyrosinase; in the tyrosinase positive type, there is normal tyrosinase which cannot enter pigment cells; it is transmitted by an autosomal recessive inheritance. The compound heterozygote is normal so the two forms are not allelic. There are several types: type IA is characterised by absence of tyrosinase with life-long complete absence of melanin, marked photophobia, and nystagmus. Type IB, yellow albinism with low or absent tyrosinase; improves with age. Type II, with normal tyrosinase activity is the most common; hair darkens and nevi and freckles develop. Type III is characterised by absent tyrosinase but pigmentation of the iris in the first decade. Type IV in Africans with normal tyrosinase. Type V with red hair. Type VI, Hermansky-Padlak syndrome, with haemorrhage due to platelet deficiency and low to absent tyrosinase. Synonym: Hermansky-Pudlak syndrome type VI. (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) |
| genes, recessive | Genes that are reflected in the phenotype only in the homozygous state. (12 Dec 1998) |
제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
|---|
제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
|---|