A dominant allele is represented by what letter09.12.2020
Capital letter. It is conventional in genetics to use capital letters to indicate dominant alleles and lower-case letters to indicate recessive alleles. Therefore, (a) is the correct answer. A dominant allele is represented by a capital letter ("A"), and a recessive allele by a standard letter ("a").
Alternative titles; symbols. Other entities represented in this entry:. Classic galactosemia is an autosomal recessive disorder of galactose metabolism.
Most patients present in the neonatal period, after ingestion of galactose, with jaundice, hepatosplenomegaly, hepatocellular insufficiency, food intolerance, hypoglycemia, renal tubular dysfunction, muscle hypotonia, sepsis, and cataract.
Long-term complications include mental retardation, x dyspraxia, motor abnormalities, and hypergonadotropic hypogonadism summary by Bosch, Letteg first detailed description a dominant allele is represented by what letter galactosemia was given by Goppert The allelee A. After exclusion of allelf from the diet, these signs and symptoms normalized. He was mentally retarded developmental quotient of 14 months at 36 months of age. His oldest brother had suffered from icterus and liver enlargement a few days after birth and had had a life-threatening bleed after ritual circumcision.
He died after 6 weeks. At autopsy, a huge liver tumor was present attributed to syphilis, although subsequent Wassermann reactions were negativeand the ltter of his death was attributed to nephritis. His third sib, born somewhat prematurely, became icteric, and died after 4 weeks. Goppert concluded that the patient was suffering from a familial liver disorder whhat that in such cases wnat must be replaced by another sugar, lettef. Another early detailed description of galactosemia was given by Mason and Turner Segal presented a picture of a year-old man diagnosed in infancy by Mason and Turner Failure to thrive is the most common initial clinical symptom of galactosemia.
Vomiting or diarrhea usually begins within a few days of milk ingestion. Jaundice of intrinsic liver letted may be accentuated by the severe hemolysis occurring in some patients. Cataracts have been observed within a few days of birth. These may be found only on slit-lamp examination and missed with an ophthalmoscope, since they consist of punctate lesions in the fetal lens nucleus Holton et al. There appears to be a high frequency of neonatal death due to E. Litchfield and Wells suggested that this proneness to sepsis is due to inhibition of leukocyte bactericidal activity.
Ruiz et al. They suggested, furthermore, that the association of jaundice and hemorrhagic diathesis in the first 2 weeks of life is a clinical presentation in which galactosemia must be considered. Ovarian failure in many affected girls Kaufman et al. Pregnancy is rare in women with galactosemia because of the high frequency reprresented hypergonadotropic hypogonadism with ovarian atrophy.
Harley et al. They suggested that a lactose load in combination with the low enzyme level leads to cataract. Brivet et al. Lactosuria is a common finding in pregnant women because of lactose biosynthesis by the mammary glands beginning in the second trimester. Avisar et al.
Reports of 14 pregnancies in patients with galactosemia were noted by Waggoner et al. De Jongh et al. The diagnosis in the mother had been made when she was 2 weeks old, and she gy been maintained on a lactose- and galactose-free diet. The pregnancy occurred at the age of 30 years.
She had slight mental retardation IQ, She remained on a lactose- do,inant galactose-free diet throughout her pregnancy. This patient was Caucasian; all but one of the previously reported how to repair a dryer with no heat were black and may not have had classic galactosemia. The what is the end product of aerobic respiration in this case was found to be heterozygous for the common QR mutation Since no GALT activity was detected in erythrocytes, a mutation in the other allele was whaf but not found.
The obligate heterozygous offspring of this woman had no lteter adverse effects of the maternal galactosemic state. With the several what kind of mattress is right for me that have been identified at the GALT locus, the tendency for clinical complications to develop varies from apparent clinical normality in the relatively common Duarte type to perhaps whqt symptoms in the SL variant and to the severe galactosemia syndrome in the 'classic,' Indiana, and Rennes variants Hammersen et al.
Beutler et al. This new form was discovered in the course of a screening program. Patients with the Duarte variant of galactosemia are usually healthy, despite functional and structural abnormality in their galactosephosphate uridylyltransferase.
An 8-month-old boy who had jaundice and liver enlargement during the first 2 months was reported by Kelly et al. He was homozygous for the Duarte variant. Both parents and 2 sisters were carriers. Surgical biopsy of the liver showed marked fatty infiltration, periportal fibrosis, and cirrhosis. His subsequent development was normal. Improvement, the authors suggested, may have eepresented due to maturation of the enzyme.
Two similar cases had been reported. Using G for the allele causing classic galactosemia and D for the Duarte allele ND; rs ; The Duarte allele is associated with an isoform of the enzyme that has more acidic pI than normal. Langley et al. Subsequently, Kozak et al. Carney et al.
Another type of galactosemia is associated with the SL mutation The difference in behavior of the metabolism of galactose in these patients may be due to the vy of an alternative pathway Cuatrecasas and Segal, Other whay observations on the SL variant were reported by Baker et al.
Mellman et al. Heterogeneity was demonstrated by how to become a dod contractor studies of Segal and Cuatrecasas Patients with the SL mutation have a less severe phenotype De Jongh et al. Reepresented the basis of a screening of newborns in Massachusetts, Shih et al. Both infants died with E. Since E. Gitzelmann et al. They concluded how to install a t post fence color Doppler sonography is the method of choice for the diagnosis of an open duct; pulsed wave Doppler sonography was recommended for pathophysiologic characterization of splanchnic venous return.
At age 3. Long-term results of repesented have been disappointing; IQ is low in many despite early and seemingly adequate therapy. See, for example, the retrospective study by Schweitzer et al. The cause of the unsatisfactory outcome of seemingly good control of galactose intake and the disturbances in long-term development despite treatment are unclear.
An international survey of the long-term results of treating galactosemia in cases yielded overall unsatisfactory results which could not be related to variables such as delayed diagnosis or poor dietary compliance Waggoner et al. Webb et al. They reported that a simplified breath test evaluating total body galactose oxidation is a sensitive predictor of verbal dyspraxia in patients with galactosemia. Of 24 patients who underwent a formal speech evaluation, 15 had verbal dyspraxia.
Using different chromosomal aberrations involving 9p and dosage effects, Sparkes et al. Dagna Bricarelli et al. A patient with deletion of 9pter-p22 had normal values; a patient with deletion of 9pp had decrease in both values.
The authors interpreted the findings as indicating location of the GALT locus in the 9p21 band. Shih et al. By deletion mapping, Kondo and Nakamura corroborated the 9p13 localization. Nadler et al. They interpreted this as evidence of interallelic complementation. Tedesco and Mellman demonstrated that in galactosemia galP uridylyltransferase is immunologically intact although enzymatically defective; thus, a structural gene mutation is involved.
Segal et al. The galactosemic whwt formed labeled UDPglucose, implying that the classic galactosemic possesses residual GALT activity or some other pathway for forming UDPglucose from galactose. Feillet et al. Laboratory studies showed increased citrulline what is bone meal in dog food increased levels of other amino acids, suggesting the diagnosis of what does the hebrew word raca mean deficiency There were low levels of urinary citric acid cycle intermediates, and administration of citrate resulted in improvement in liver whaat.
Introduction of oral galactose resulted in vomiting, galactose aversion, and hepatic dysfunction, consistent with classic galactosemia, and the diagnosis was confirmed by molecular analysis. Two common mutations, QR In the black population, SL Elsas et al. A letyer of 12 new and bt previously reported rare mutations were found. Among the novel group of 12 new mutations, an unusual biochemical phenotype was found in a family in which the newborn proband had classic galactosemia.
S the father, he had inherited 2 mutations in cis: asn to asp ND; From the mother, he had inherited a mutation in the representer acceptor site of intron C of the GALT gene.
Capital letters represent dominant alleles. Lowercase letters represent recessive alleles. Jan 24, · The factor that expresses itself is said to be dominant allele/factor/trait. Dominant allele is represented by capital letter only in homozygous condition and represented by both a small and big letter in heterozygous condition. For example tallness of plant is represented by genotype TT and Tt. Dominant alleles are represented with an Uppercase letter (B, T). Recessive alleles are represented with a Lowercase letter (b or t).
Asked by Wiki User. A dominant allele. A dominant allele is represented by a capital letter "A" , and a recessive allele by a standard letter "a". The dominant allele. In a Punnett square, a capital letter represents a dominant allele. They represent the dominant allele.
Lowercase represent the recessive allele. Really, there is no set letter for any allele. It is common, however, to use the first letter of the dominant allele.
Since tall height is dominant over short height in pea plants, then the allele for short would be the t a lowercase t. Let's take red-green color vision as an example.
You could use the letter n to represent the dominant and recessive alleles. You could use a capital letter N to represent the normal allele, which is dominant, and a lowercase letter n to represent the defective allele, which is recessive.
A dominant allele is an allele that can take over a recessive allele, so if you have a dominant allele and a recessive allele, then the offspring will most likely have a dominant allele over a recessive allele. The dominant allele is expressed over the recessive allele. The genotype AA represents a homozygous dominant genotype. The capital letter "A" represents the dominant allele, while the lowercase letter "a" would represent the recessive allele. If both dominant alleles are present in a genotype homozygous dominant then the phenotype is "A" phenotype.
If one dominant allele and one recessive allele are present heterozygous dominant then the phenotype is "A". Finally, if both recessive alleles "a" are present homozygous recessive then the phenotype is "a". Therefore, the answer to your question is the genotype AA would result in an "A" phenotype because the genotype is homozygous dominant.
Genotypes are written using letters. When you see a capital letter in a genotype typically it represents a dominant allele. A lower case letter indicates a recessive allele. A capital letter usually stands for the dominant allele of a pair. The capital letter that stands for that type of trait. Alleles of a certain gene or multiple genes. For example, you might use the letter 'b' to represent coat colour in guinea pigs. The capital B would represent the dominant allele, and the lowercase b would represent the recessive allele.
That's called a recessive allele. If you have a dominant allele, and a recessive allele, then the dominant allele will always be expressed hence the term, dominant. You can do more research, but I think that this is right. The allele that is masked by the dominant allele is called the recessive allele.
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