| 영문 | protein | 한글 | 단백질 |
|---|---|---|---|
| 설명 | 탄소, 수소, 산소, 질소, 황을 함유하고 있는 유기화합물로, 모든 세포의 원형질을 이루고 있는 기본 구성물질이다. 단백질은 그 단위인 아미노산들이 펩티드결합에 의해 결합되어 있으며, 보통 20개의 아미노산들이 다른 순서와 조성을 가지고 배열되어, 독특한 하나의 단백질을 형성하게 된다. |
||
| MMR | mass miniature radiography; masseter muscle rigidity; maternal mortality rate; measles-mumps-rubella... |
|---|---|
| FMR | fragile site mental retardation [syndrome]; Friend-Moloney-Rauscher [antigen] |
| FRAXE | X-linked mental retardation-fragile site [syndrome] |
| FRAX-MR | fragile X-mental retardation [syndrome] |
| MR | 1) Mitral Regurgitation = MI 2) Minor Response... |
| FMRP | Fragile X mental retardation 1 protein |
|---|---|
| FMR1 | Fragile X Mental Retardation gene 1 |
| FMR-1 | Fragile X Mental Retardation-1 |
| MR | Mental Retardation |
| SMR | Severe Mental Retardation |
| familial mental retardation protein | See FMRP. (12 Dec 1998) |
|---|---|
| mental retardation | Subnormal intellectual functioning which originates during the developmental period and is associated with impairment of one or more of the following: (1) maturation, (2) learning, (3) social adjustment. (12 Dec 1998) |
| clasped thumbs and mental retardation | A syndrome with the following characteristic features: (1) neurologically:mental retardation and aphasia (lack of speech); (2) limbs: adducted (clasped) thumbs, absent extensor pollicis longus and/or brevis muscles to the thumb, shuffling gait, and leg spasticity; (3) growth: small body size; (4) skeleton: lumbar lordosis (sway back). The syndrome is inherited as an X-linked trait and so affects mainly boys. Alternative names include MASA syndrome (MASA stands for mental retardation, aphasia, shuffling gait, and adducted thumbs), adducted thumb with mental retardation, congenital clasped thumb with mental retardation, and the Gareis-Mason syndrome. (12 Dec 1998) |
| congenital clasped thumb with mental retardation | See: Clasped thumbs and mental retardation. (12 Dec 1998) |
| familial mental retardation 1 | See FMR1. (12 Dec 1998) |
| mental branches of mental nerve | <anatomy, nerve> Branches of the mental nerve providing general sensory innervation to the skin of the chin. Synonym: rami mentales nervi mentalis. (05 Mar 2000) |
| 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 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) |
| 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) |
| gel retardation assay | A lab technique used to find out if there are proteins binding a fragment of DNA (in a DNA-protein complex) by watching how fast the DNA fragment moves through an electric field and seeing whether it moves slower when a particular protein is also present. (09 Oct 1997) |
| viscoelastic retardation | A technique for the measurement of the molecular weight of large DNA molecules; the DNA is stretched by hydrodynamic shear forces and, when the molecules relax, the relaxation time is measured. (05 Mar 2000) |
| retardation | Delay, hindrance, delayed development. Origin: L. Retardare = to slow down, impede (18 Nov 1997) |
| retardation plate | <optics> A plate placed in the path of a beam of polarized light for the purpose of introducing a difference in phase. Usually a quarter-wave plate and a first-order red plate are furnished with a polarizing microscope. See: quartz wedge, compensator. (10 Mar 1998) |
Synonyms : FMRP Protein, Fragile X Mental Retardation-1 Protein, Fragile X Mental Retardation 1 Protein
제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
|---|
제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
|---|