Point mutation

of cystic fibrosis (CF) associated mutation (△F508 and G551D) in DNA sample using allele specific polymerase chain reaction (ASPCR). Abstract Elevated levels of blood immunoreactive trypsinogen (IRT) may be obtained in patients with cystic fibrosis (CF), when it is detected in primary screen, DNA analysis is performed to look for the 12 most common mutations associated with CF. This study aimed to investigate presence of the two most common CF associated mutations, △F508 and G551D, at exon 10…

the truth. The evolution of the human species does not stop. Human is a new species evolved by chimpanzee.Then, a series of unique mutations were carried out from human. Thus, these mutations form the unique characteristic of human beings. Because each gene of human is not totally same. So the genes of human beings will cause different characteristics and mutations from some elements.(Such as the colors of eyes and hairs.) But evolution does not have rules but…

A designer baby use to just be a futuristic idea like flying cars, but now it is becoming a reality. Science has got so advance we are on the revenge of knowing how to genetically modified an embryo and make is into what we want. Parents will soon be able to decide what they want their child to be like. They can make them tall, skinny, and smart if they wanted to. This is called prenatal engineering. By way of prenatal engineering parents can create the baby of their dreams. Thing about prenatal…

cellular processes, p53 is prone to mutations and is mutated in 80–90% of NSCLCs and in 50% of SCLCs [Sekido et al., 2001]. Most missense mutations in the TP53 gene occur in the DNA-binding domain, abolishing its transactivation function because mutant p53 cannot activate p21WAF1/CIP1, the cell cycle can proceed unabated. It is Exon 5-8 which are very prone to mutations & codon 157 is commonly known as mutational hotspot in lung Cancers, besides that codon 248 & 273 mutations are hotspot…

Desmoplastic Ameloblastoma: A Case Report Abstract Ameloblastoma is the most common odontogenic tumor of epithelial tissue origin. There are various types of Ameloblastomas. In that, Desmoplastic ameloblastoma is one of the rare variant of ameloblastoma. Because of its rare occurrence, exact nature of the lesion yet to know. Hence nature of the Desmoplastic ameloblastoma need to be highlighted. We report a case of desmoplastic ameloblastoma in a 45-year-old female with a painless swelling in…

Based on Mendel’s experimental observation and conclusion on pea plants, he proposed four postulates including one that each phenotypical characteristic are controlled by a pair of unit factors also known as alleles that separate independently in gametes. Although Mendel’s contribution to genetics isn’t wrong, there are some exceptions of inheritances that do not follow Mendel’s principles. Non-mendelian inheritance traits include maternal effects, epigenetics, and extranuclear genes. What makes…

Our interest in the topic of Down syndrome (Trisomy 21) started when we heard about how many people are affected by this disease. The number of people affected by this disease in the United States alone is around 400,000 people. This genetic disorder is caused when a person is born with an extra copy of chromosome twenty-one. Down syndrome is recognized by things such as short stature, a distinctive palm crease, stubby fingers, mental retardation that can end up being serious, a wide gap between…

system (i.e. the immune system becomes susceptible to infections, improper clotting, etc.). The cause for the excessive production of cells is unknown but risk factors that can make children more susceptible to this disease involves various genetic mutations such as: Down syndrome, Neurofibromatosis type 1, mismatch repair deficiency…

Humans and their extinct relatives, Neandertals, both possess the same mutation that causes a null allele at the blood group gene, giving individuals the O blood type phenotype, and the allele’s frequency in both humans and sampled Neandertals suggests that the allele confers some advantage to its possessor and underwent positive…

1. Is it true that a homozygous dominant father and a homozygous recessive mother could give birth to a homozygous recessive child with the disorder phenotype? Explain. From the information provided, it can be determined that this statement is not true, as the offspring of this couple will not be homozygous recessive for the given trait. As both of the parents are homozygous for their respective alleles, every child would receive an allele from each parent, one being dominant (D) and the other…