BLAT Analysis On Biology

The purpose of this experiment was to measure the T4 reversion rate to wild type combination, and the recombination frequency recombination frequency of the T4 mutants to the wild type. Also to determine the distance between the two mutants, which are T4 rII 29 and T4 rII 31.

Genomic DNA is heterogenrous because it shows 2 fragments on 2% agarose gel which come from parents, mom and dad. Moreover, the tandem repeats(n) is within the standard limit (14-41) of heterogenic DNA. So, the sample is heteregenerous.

people with Cystic Fibrosis. Most of these mutations change single protein amino acids in the CFTR

The mammalian cytochrome P450 CYP belongs to superfamily and mainly encodes enzymes involved in the metabolism of pharmaceuticals, foreign chemicals and pollutants [1]. Several mutations were observed in CYP genes which are responsible for inborn errors of metabolism leading to multiple diseases. It was observed from previous studies, gene nomenclature was simpler before arrival of complete genome. This is due to the fact that detailed information about gene position on the chromosome did not affect the gene names. Therefore, in the past names were assigned only on the basis of sequence similarity and evolutionary divergence [4, 5]. But now genes occur in clusters, with several related genes, and many pseudogenes. Also, genes in subfamilies are found to be clustered with genes of other subfamilies [6]. Pseudogenes are found to be manily involved

The mutations that cause MAS occur at a site in the protein that normally lead to inactivation by GTPase. The inactivation leads to ongoing stimulation of adenylyl cyclase and high levels of cAMP. High cAMP results in hyper endocrine responses, even in the absence of stimulating hormones, affecting melanin, growth hormone, cortisol and thyroid hormones among others. The disorder shows clinical presentations in the skeletal, integumentary and endocrine

The aromatase enzyme CYP19A1 is so named because it is responsible for catalyzing the conversion of 19-carbon androgens to 18-carbon aromatic estrogens . The CYP19A1 is complex bound to the SER of the cells, and is localized in the ovaries, testis, placenta, and fat-, brain-, and bone tissues.

screenings in multiple populations, it was concluded that the most common mutation shared between Caucasians is R864X.

The symptoms are excessive mucus in lungs, liver, and digestive tract. Alleles are different versions of a given gene and there are two different types of alleles. The first one is dominant allele this one prevents a second allele from affecting the phenotype when two alleles are paired together. On the other hand, recessive allele does not affect the phenotype when it is paired with a dominant allele. If the alleles are the same type then the organism is homozygous for that trait, but if it is not it’s heterozygous. The dominant alleles are given capital letters and the recessive alleles are given lower case letters. Alleles can be tracked across generations, there are three generations. The first one is P generation this is the parents, the second one is F1 generation this one is the first set of offspring. The last one is F2 generation this is the offspring of

Bench 3 was analysing polymorphism resulting from a mutant allele of CYP1A1 diverting from a wild type. The mutant allele of the gene in question (CYP1A1) results in the presence of a restriction site for the enzyme Msp1. Subjects homozygous for the mutant allele show 2 bands (200bp and 140bp) due to the restriction enzyme cutting a site in the allele and those heterozygous show 3 bands (340bp, 200bp and 140bp) and those homozygous for the wild type show the one band (340bp).

The total number of recombinants of Type B asci and Type C asci was divided by the total amount of the recombinants and non-recombinants counted. The percentage was calculated by multiplying the previous answer by 100. The map distance was found by dividing the percent of the crossovers by 2 because each crossover produced two spores identical to the parents and two spores that resulted from the crossover.

1. Assessment of the CYP27A1 expression: The authors stated that CYP27A1 is the only enzyme which converts cholesterol to 27-hydroxycholesterol in human. So they have measured the concentrations of 27-hydroxycholesterol and cholesterol in mice. They interpreted CYP27A1 inhibition from those concentrations. However, they did not mention that CYP27A1 is the only enzyme which converts cholesterol to 27-hydroxycholesterol in mice too. Therefore, we are not sure that the only concentration of 27-hydroxycholesterol will make the authors’ conclusion valid.

genetics, a causative mutation could be mapped to a chromosomal region using linkage analysis of

Although the genetic information pouring in from research efforts are able to identify DNA variants that alter protein sequence, taking this information and translating it into a functional explanation for disease susceptibility is quite another matter (Kumar, Dudley, Filipski, and Liu, 2011). Since laboratory studies cannot replicate the natural environment within which these potentially functional variants arise and therefore may produce misleading results, researchers have turned to the growing body of phylogenetic information, which represents a natural laboratory that has been running experiments for millions of years.

chomosom and the mutation is recessive. The parents can be carrier of the gene : they have

Variants were identified with Genome Analysis Tool Kit’s which led to further discovery and progress in the study. The sequencing was performed on the 43 genes, and 95 percent of targeted bases were sequenced to a read depth of more than 20 times. The main focus was on truncating variants that included nonsense, frameshift, and splicing variants, because they are predicted to have a strong effect on protein structure and function.