Polymorphism

Sickle cell disease (SCD) is a monogenic disorders (Bhanushali et al., 2014) characterized by chronic hemolytic anemia, acute vaso-occulusive crises (Platt, 2008), and the acute chest syndrome (ACS) (Lettre et al., 2008). A point mutation in the β-globin gene, the substitution of valine for glutamic acid at position 6 of the β-globin gene (Glu6Val), is the major cause of sickle cell anemia (Platt, 2008; Mtatiro et al., 2015). The mutated β-globin gene (Glu6Val) leads to the formation of sickle…

individual’s cheek. After it is collected, the samples are then sent to a lab for the further steps of DNA analysis. There are different methods that can be used to analyze this DNA. One of these techniques is known as restriction fragment length polymorphism, or RFLP. This is used to identify changes in the genetic structure and…

spatial or temporal development whiting or among individual (Figure 1.). The effect on models of reproduction, and the ecological impact on genes diversity within populations highly increased the number of studies about evolutionary transitions and polymorphism among mating systems in…

20-25% of clinically used drug are metabolized by the CYP2D6 enzyme. CYP2D6 substrates are typically lipophilic and include drugs such as antidepressants, antipsychotics, antiarrhythmic, antiemetic, and opioids. The exact clinical effect of the polymorphism is dependent on the drug and the variant alleles expressed because individual allele variants can lead to a range of metabolic ability from ultrarapid metabolizers (UMs) to poor metabolizers (PMs). There have been 74 identified allelic…

into the human genome, enabling its use as genetic marker for ancestry differentiation,and thus identification. Due to new insertions, some humans do not have an alu insertions, while others may have accumulated mutations causing three types of polymorphisms, S1, S2 and L, the reference alu insertion, YB8 was useful as a standard to the comparison of nucleotide sequences changes to uncover the difference in the presence and absence of alu insertions, and the various alleles occurred by…

The clinicopathologic records for each patient were published previously [17] (Table 1). The average age of the randomly selected group of 100 breast carcinoma cases with stage I (24%), stage II (39%), stage III (33%), and stage IV (2%) and two patients undetermined disease was about 51.5 years. Fifty-eight percent of the patients were premenopausal cases, with an average age of 37.5 years. The average age of postmenopausal patients was 61.2 years. Numerous publications have reported aberrant…

The case group consist of 297 patient with approved chronic HBV infection. 220 male (aged 12-70, mean=34.93) and 77 female (aged 11-67, mean=33.75). The maximum and Minimum of the ages were 70 and 11 respectively, with total average of 34.62±12.61. The control group consist of total 333 healthy people aged 17-69, mean=38.4±10.7, 203 male, aged 17-69 and 130 female aged 18-69. The control group were clear according to immunologic, known infectious diseases and HBV serologic tests. 3.2.…

1. In your own words, define what is a mutation? Abnormal inherited or acquired permeant alteration in the sequences of the nucleotides of the deoxyribonucleic acid of an organism may or may not change organism phenotype, it occurs with a frequency of less than1% among a population. 2. Are mutations bad or good for you? Justify your answer in either case Mutations could be good, bad, or may have little or no effect. Beneficial mutations: Some mutations if they happen they have a positive…

enzyme in a medical center in a U.S. city. The patient population is predominantly Caucasian and African-American. The genotyping targets polymorphisms found at the highest frequencies in these two populations. More recently, a high influx of immigrants from South Korea, Japan, and Vietnam begin to enter the city. If you continue to offer the same polymorphisms, what are the major limitations you will encounter in detecting clinically significant genetic variation? How would you modify the…

mutations, deletions and single nucleotide polymorphisms, genome organization and evolutions (Jones et al., 2009). In many crop breeding programmes, these markers are used to track loci and genomic regions which are strongly linked with a large number of agronomic and disease resistance traits found in crop species (Varshney et., 2007). In this study, we applied single nucleotide polymorphism (SNP) markers which are described in detail. Single Nucleotide Polymorphism…