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DARLINE FRANCOIS

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1. 1 1-What are Genes?

A unit of heredity which is transferred from a parent to offspring and is held to determine some characteristic of the offspring (proteins coded directly by genes). A distinct sequence of nucleotides forming part of a chromosome, the order of which determines the order of monomers in a polypeptide or nucleic acid molecule which a cell or virus may synthesize.

 

      2 2-Describe what a chromosome is and how are present normally in human beings?

Chromosomes are thread-like structures located inside the nucleus of animal and plant cells. Each chromosome is made of protein and a single molecule od deoxyribonucleic acid (DNA). Passed from parents to offspring, DNA contains the specific instructions that make each type of living creature unique.

 

3 3-Concepts for: Euploid cells, Diploid Cells, Aneuploid Cells? What is a Polyploidy?

Euploid cells: Is a chromosomal variation that involves the entire set of chromosomes in a cell or an organism. Euploidy is more tolerated in plants than in animals. There may be in a single set (monoploidy), two sets (diploidy), or multiple sets (polyploidy).

 

Diploids cells: Diploid is a term that refers to the presence of two complete sets of chromosomes in an organism’s cells, with each parent contributing a chromosome to each pair. Humans are diploid, and most of the body ‘cells contain 23 chromosomes pairs.

 

Aneuploids Cells: Aneuploid cells have an abnormal number of chromosomes. Because each chromosome contains hundreds of genes, the addition or loss of even a single chromosome disrupts the existing equilibrium in cells. And in most cases, is not compatible with life.

 

 

  

 

       4-What is a Trisomy and an example of it?

The presence of an extra chromosome in some or all the body’s cells. This results in a total of three copies of that chromosome instead of the normal two copies. For examples, Down syndrome (trisomy 21) is caused by having three copies of chromosome 21 instead of the usual two copies.

 

1. 5 5-What means Homozygous and heterozygous in Mendelian Heritance?

Through careful study of patterns of inheritance, Mendel recognized that a single trait could exist in different versions, or alleles, even within an individual plant or animal.

An organism with two of the same alleles for a particular gene is homozygous at that locus; an organism with two different alleles for a particular gene is heterozygous at that locus. An organism phenotype is an observable trait.

 

1. 6 6-Which are special features of X Linked genetic diseases?

X-linked inheritance means that the gene causing the trait, or the disorder is located on the X-chromosome. A male carrying such a mutation will be affected because he carries only one X chromosome. A female carrying a mutation in one gene, with a normal gene on the other X chromosome, is generally unaffected.

Examples of X-linked recessive conditions include Red-green color blindness. Red, green color blindness simply means that a person cannot distinguish shades of red and green (usually blue-green). Their visual acuity is normal.

 

 

7     7-What is a risk factor?

A risk factor or determinant is a variable associated with an increased risk of disease or infection. Due to a lack of harmonization across disciplines, determinant, in its more widely accepted scientific meaning, is often used as a synonym. Something that increase the chance of developing disease.

 

8     -8 Also, what is a congenital disease?

A congenital disorder is a condition that is present from birth. Congenital disorders can be inherited or caused by environmental factors. Congenital anomalies can be defined as structural or functional anomalies that occur during intrauterine life.

 

9     -9 Epigenetic and Mental Health.

Current mental health epigenetic research supports that adverse psychosocial experience are associated with mental disorders. Epigenetic has been linked to several disorders such as anxiety, stress, depression, schizophrenia, and addiction

Psychiatric disease is believed to result from a combination of genetic vulnerability and environmental influence. At the crux are epigenetic modifications, which mediate the influence of environment on the genome.

 

 

 

 

10  10-DNA Methylation: why is important?

DNA methylation is a biological process by which methyl groups are added to the DNA molecule. Methylation can change the activity of a DNA segment without changing the sequence. When located in a gene promoter, DNA methylation typically acts to repress gene transcription.

 

 

Orencia Gonzalez

What are Genes?

Genes are items of DNA (deoxyribonucleic acid) inside each cell that inform the cell what to do and when to expand and divide. Each gene is composed of a particular DNA series which contains the code (the directions) to make a certain healthy protein, each of which has a details task or function in the body.

Describe what a chromosome is and how are present normally in human beings?

Chromosomes are thread-like frameworks located inside the nucleus of pet and also plant cells. Each chromosome is made from healthy protein as well as a single particle of deoxyribonucleic acid (DNA). Passed from moms and dads to children, DNA consists of the specific guidelines that make each type of living creature one-of-a-kind. The distinct structure of chromosomes maintains DNA firmly twisted around spool-like healthy proteins, called histones (Park, et al., 2017). Without such product packaging, DNA particles would be as well lengthy to fit within cells. For a microorganism to grow and also work correctly, cells have to regularly separate to create brand-new cells to replace old, damaged cells. Throughout cellular division, it is necessary that DNA remains undamaged and uniformly distributed amongst cells. Chromosomes are a key part of the process that makes sure DNA is accurately duplicated as well as dispersed in the huge bulk of cellular division (Park, et al., 2017). Still, blunders do occur on unusual celebrations.

Concepts for: Euploid cells, Diploid Cells, Aneuploid Cells? What is a Polyploidy?

Euploldy is the presence of chromosome number which is the numerous of the basic chromosome set. An organism with the fundamental chromosome number 7, might have euploids with chromosome number 7, 14, 21, 28, 35, 42. Euploids are even more of different types– monoploids, diploids and also polyploids. Diploid cells have two collections of chromosomes (Park, et al., 2017). It is developed by the blend of two haploid cells. Most mammals are diploid, that is, they have two homologous duplicates of each chromosome in cells. They are generated by mitosis. Somatic cells in human beings are diploid cells. The aneuploidy refers to a condition in which you add or delete one or some chromosomes regular variety of chromosomes. Consequently, the number of chromosomes in aneuploidy might be better or less than the number of chromosomes in the wild type, a strain that is prevalent amongst people under natural conditions (Park, et al., 2017). Different kinds of aneuploidy can be recognized as nullisomy, monosomy, and also trisomy.

What is a Trisomy and an example of it?

A trisomy is a kind of polysomy in which there are three circumstances of a particular chromosome, instead of the regular two. A trisomy is a sort of aneuploidy (an unusual variety of chromosomes). Trisomies can occur with any kind of chromosome, yet frequently lead to miscarriage, instead of live birth. For instance, Trisomy 16 is one of the most usual trisomy in human pregnancies, happening in greater than 1% of pregnancies; just those pregnancies in which some typical cells occur in addition to the trisomic cells, or mosaic trisomy 16, survive (Iannello, & Belfiore, 2021).

What means Homozygous and heterozygous in Mendelian Heritance?

Homozygous (and its less usual kind homozygotic) indicates associating with a cell that has two the same alleles for a certain genetics at equivalent positions on homologous chromosomes. Heterozygous (and its less typical kind heterozygotic) indicates relating to a cell that has 2 various alleles for a certain genetics at corresponding positions on homologous chromosomes.

Which are special features of X Linked genetic diseases?

X-linked problems arise from mutated genetics on the X chromosome. Males, who have just one X chromosome (i.e., they are hemizygous), will totally express an X-linked problem. On the other hand, females, who have two X chromosomes, will certainly be carriers of the defect in the majority of cases, and so they are typically asymptomatic (Iannello, & Belfiore, 2021). Although women have two X chromosomes to the male’s one, products from this chromosome are quantitatively similar in both sexes since one of both X chromosomes in women is inactivated. X-linked problem with decreased variable VIII (hemophilia A), irregular element VIII with platelet dysfunction (von Willebrand’s illness), or aspect IX (hemophilia B– Christmas illness); characterized as mild, moderate, or extreme based upon quantity of variable existing.

What is a risk factor?

Risk variable is a variable associated with an increased risk of disease or infection. Danger variables are correlational and also not necessarily causal, since connection does not verify causation. For instance, being young can not be said to cause measles, yet young people have a greater price of measles due to the fact that they are much less most likely to have created immunity throughout a previous epidemic (Iannello, & Belfiore, 2021).

Also, what is a congenital disease?

Congenital heart disease is one or more problems with the heart’s structure that exist given that birth. Hereditary ways that you’re born with the condition. Congenital heart disease in grownups and also children can alter the way blood flows with the heart (Tonelli, 2016). There are many different kinds of congenital heart flaws.

Epigenetics and Mental Health.

Most of us can remember a miserable or stressful incident in our childhood years, but that’s very various from experiencing persistent trauma as well as stress and anxiety. Injury and also PTSD are classified as either basic or complicated. Basic trauma is normally related to a certain, considerable event, such as all-natural disaster or an auto crash (Tonelli, 2016). Complex trauma is persistent and prevalent, and also it’s this type of ongoing tension that influences individuals both physically as well as emotionally for the remainder of their lives. When youngsters mature in an atmosphere where they are subjected on a regular basis to what they regard as a risk, their nerves is perennially in a state of fight-flight-or-freeze. Epigenetics, in its simplest meaning, describes the stable modifications in genetics expression without adjustment of the DNA sequence. In the context of depression, these modifications are usually triggered by severe stress, and they can result in a boosted vulnerability in the mind’s limbic areas (Tonelli, 2016).

DNA Methylation: why is important?

DNA methylation is essential for silencing retroviral aspects, controling tissue-specific genetics expression, genomic imprinting, and also X chromosome inactivation. Notably, DNA methylation in various genomic regions may put in different impacts on genetics tasks based on the hidden hereditary series.

Reference

Park, M. J., An, G. J., Jeong, J. S., Kim, H. S., Hong, H. S., & Choe, M. (2017). Educational need assessment of advanced practice nurses on the pathophysiology. Journal of Korean Biological Nursing Science, 9(1), 85-102.

Iannello, S., & Belfiore, F. (2021). A review of pathophysiological, clinical and therapeutical aspects. Panminerva medica, 43(3), 177-209.

Tonelli, M. R. (2016). Integrating evidence into clinical practice: an alternative to evidence‐based approaches. Journal of evaluation in clinical practice, 12(3), 248-256.

Taymir Torres

Genes

Genes are the basic functional unit of heredity that act as guidelines to make proteins and are made up of DNA (Dueñas et.al, 2019).

Chromosome

A is a thread-like structure made of protein and a single molecule of DNA and is located in the nucleus of plant and animal cells. It is also passed to offspring from their parents and makes any living organism unique (Dueñas et.al, 2019).

Euploid cells, Diploid Cells, Aneuploid Cells and Polyploidy

Euploid cells are cells that possess a chromosomal variation where there is an additional set of chromosomes in a cell. The number of chromosomes in euploid cells is an exact multiple of chromosome number in normal cells. Diploid cells are cells with two sets of chromosomes. Aneuploid cells are cells with a variable number of chromosomes in a cell. This variation occurs when one or a few chromosomes are either deleted or added from the normal chromosome number (Dueñas et.al, 2019).

Trisomy

Trisomy is a genetic disorder where individuals have three sets of chromosomes instead of the normal two. The most common types of trisomy are triple X syndrome, Down syndrome, and Klinefelter syndrome (Dueñas et.al, 2019).

Homozygous and heterozygous in Mendelian Heritance

Mendelian inheritance is a biological inheritance that follows particular patterns to indicate how traits can be passed to offspring (Mittelsten, 2022). In Mendelian inheritance, a trait is inherited when through a certain pattern with a controlled single locus. Through mutation, a single gene has the power to cause a disease that can be inherited.

Homozygous refers to inheritance where an offspring inherits the same version of the gene from each parent resulting in two matching genes. Heterozygous refers to inheritance where an offspring ends up with two versions of a gene, one from each parent (Mittelsten, 2022).

 

X Linked genetic diseases

In X-linked inheritance, a father is unable to pass X-linked traits to their male offspring leading to X-linked recessive disorders (Matsunari et al., 2018). The X gene in males can mutate leading to X-linked recessive inheritance. However, x-linked recessive inheritance does not affect female since one carrying a mutation in one gene while the other gene in normal remains unaffected by recessive disorders.

Risk factor

A risk factor is anything that increases the chance of conducting a disease. In gene inheritance, risk factors are inherited from parents to offspring through genetic difference that increases the risk of getting diseases.

Congenital disease

A congenital disease is a medical condition inherited from parents that occur before or at birth (Duena et al., 2019). Some examples of congenital diseases are congenital heart disease, cleft lip and cleft palate, haemophilia, cystic fibrois and Down syndrome. A congenital disease is popularly referred to as a birth defect and can be acquired in fetal stage of development or from genetic inheritance from parents. A congenital disease can also be caused by environmental (external) factors.

Epigenetics and Mental Health

Epigenetics and mental health are related as exposure to environmental stressors can lead to the development of mental health or vice versa (Mews et al., 2019). For instance, while traumatic life events can trigger mental health problems, exposure to a salutary environment has a positive impact on mental health.

Methylation

Methylation is a chemical reaction, which affects nucleic acids and proteins, where a small molecule is added to other molecules (Joyce et al., 2018). While methylation may contribute to health problems, it is crucial to the overall wellbeing of an individual since it regulates tissue-specific gene expressions, silences retroviral elements, and plays a crucial role in gene imprinting. Methylation helps the body detoxify and regulate hormones.it helps the body make neurotransmitters that contribute to brain health and mental wellbeing of a person by balancing their mood.

References

Dueñas, A., Expósito, A., Aranega, A., & Franco, D. (2019). The role of non-coding RNA in congenital heart diseases. Journal of Cardiovascular Development and Disease, 6(2), 15.

Joyce, B. T., Zheng, Y., Zhang, Z., Liu, L., Kocherginsky, M., Murphy, R., … & Hou, L. (2018). miRNA-Processing gene methylation and cancer risk. Cancer Epidemiology and Prevention Biomarkers, 27(5), 550-557.

Matsunari, H., Watanabe, M., Nakano, K., Enosawa, S., Umeyama, K., Uchikura, A., … & Nagashima, H. (2018). Modeling lethal X-linked genetic disorders in pigs with ensured fertility. Proceedings of the National Academy of Sciences, 115(4), 708-713.

Mews, P., Calipari, E. S., Day, J., Lobo, M. K., Bredy, T., & Abel, T. (2021). From circuits to chromatin: the emerging role of epigenetics in mental health. Journal of Neuroscience, 41(5), 873-882.

Mittelsten Scheid, O. (2022). Mendelian and non-Mendelian genetics in model plants. The Plant Cell, koac070. https://doi.org/10.1093/plcell/koac070

 

 

 

 

 

 

Clara Pena Espinosa

What are Genes?

A gene is the basic physical as well as functional device of heredity. Genetics are composed of DNA. Some genes act as directions to make molecules called proteins.

Describe what a chromosome is and how are present normally in human beings?

A chromosome is a lengthy DNA particle with component or every one of the hereditary material of an organism. Most eukaryotic chromosomes consist of product packaging healthy proteins called histones which, assisted by chaperone healthy proteins, bind to and condense the DNA molecule to keep its integrity (Tkacs, et al., 2020). These chromosomes display a complicated three-dimensional framework, which plays a substantial role in transcriptional regulation.

Concepts for: Euploid cells, Diploid Cells, Aneuploid Cells? What is a Polyploidy?

A regular diploid cell has a total amount of 46 chromosomes, arranged in 23 sets. This is called a 2n cell. Diploid cells increase by mitotic cell division. Throughout reproduction, gametes such as sperms and also egg cells are generated by meiosis cellular division. Euploidy refers to the variation in the full set of chromosomes in a cell or microorganism. Euploidy is common in plants and also happens in high frequency than animals. Considering that chromosomal number in a cell affects the sex equilibrium of pets, euploidy in animal cells results in sterility (Tkacs, et al., 2020). Thus, euploidy is typically pertaining to plants greater than animals. Aneuploidy describes a variation in the total chromosome number in a cell or organism by addition or deletion of chromosomes. Unlike euploidy, it does not include a distinction of several full sets of chromosomes. As a matter of fact, aneuploidy does not alter the variety of chromosome sets, it just alters the regular total variety of chromosomes in a cell or microorganism.

What is a Trisomy and an example of it?

The term “trisomy” is made use of to describe the existence of an additional chromosome or three instead of the typical set. For instance, trisomy 21 or Down syndrome occurs when an infant is born with three # 21 chromosomes. In trisomy 18, there are 3 duplicates of chromosome # 18 in every cell of the body, as opposed to the normal pair (Collard, & Gelman, 2021). One of the most usual is Requirement Trisomy 21, in which the daddy’s sperm or the mom’s egg cell includes the extra chromosome. In Mosaic Down syndrome, the added chromosome automatically looks like the embryo creates.

What means Homozygous and heterozygous in Mendelian Heritance?

Homozygous has 2 same duplicates of the same allele coding for a specific attribute. Includes just one type of allele, either dominant or recessive. Self-fertilization leads to the repeating of the very same traits over generations. Only one kind of gamete is created. It can be either homozygous leading or homozygous recessive. Heterozygous has 2 different duplicates of alleles coding for a specific characteristic. Has various alleles for an attribute (Collard, & Gelman, 2021). Both leading and recessive. Self-fertilization leads to different mix of traits over the future generation. Two sorts of gametes are produced. Heterozygous alleles can reveal full dominance, codominance or insufficient supremacy.

Which are special features of X Linked genetic diseases?

X-linked recessive inheritance is a setting of inheritance in which a mutation in a genetics on the X chromosome triggers the phenotype to be always revealed in males (who are always homozygous for the gene anomaly due to the fact that they have one X and one Y chromosome) as well as in women that are homozygous for the gene anomaly. Ladies with one duplicate of the mutated genetics are service providers. X-linked inheritance means that the gene causing the quality or the condition is located on the X chromosome (Collard, & Gelman, 2021). Females have two X chromosomes while males have one X and also one Y chromosome. Carrier females that have only one copy of the anomaly do not typically express the phenotype, although distinctions in X-chromosome inactivation (called skewed X-inactivation) can cause varying levels of clinical expression in provider females, since some cells will share one X allele and also some will reveal the various other.

What is a risk factor?

Any kind of behavioral, hereditary, environmental, or other factor to consider which increases the probability of creating a condition or disorder, or becoming associated with hazardous circumstances.

Also, what is a congenital disease?

A congenital disorder is a condition that is present from birth. Congenital disorders can be acquired or caused by ecological aspects. Their impact on a child’s wellness as well as advancement isn’t always extreme, as well as often it can be fairly moderate. Nevertheless, a kid with a congenital disorder may experience a handicap or health problems throughout life. It’s natural to be concerned about congenital disorders if you’re pregnant or planning a maternity, specifically if your family has a background of a particular disorder (Laleman, et al., 2015). It’s feasible to examine for some, yet not all conditions while pregnant, and there are additionally points you can do to minimize the opportunities of your baby being born with a congenital disorder.

Epigenetics and Mental Health.

Epigenetics is a brand-new and also revolutionary concept in the field of psychology and psychological wellness. Epigenetics research is revealing that our genes can in fact switch on or turn off in action to what happens in our life and also how our atmosphere influences us. This understanding has actually lastly put to bed the olden debate relating to nature vs. support– in other words, whether who we are is established by our genetic make-up or by our life experiences (Laleman, et al., 2015). Epigenetics makes it clear that they work in tandem to influence both physical and also mental health and wellness.

DNA Methylation: why is important?

DNA methylation is the process of transferring 4 atoms into different materials in your body. Or, to break it down also further, methylation is the procedure your body uses to include methyl teams to the DNA particle, thus altering the task of a DNA sector without altering the sequence. DNA methylation manages gene expression by recruiting healthy proteins associated with genetics repression or by inhibiting the binding of transcription element( s) to DNA (Laleman, et al., 2015). The precise policy of DNA methylation is vital for normal cognitive function.

Reference

Tkacs, N., Herrmann, L., & Johnson, R. (Eds.). (2020). Advanced Physiology and Pathophysiology: Essentials for Clinical Practice. Springer Publishing Company.

Collard, C. D., & Gelman, S. (2021). Pathophysiology, clinical manifestations, and prevention of Diseases. The Journal of the American Society of Anesthesiologists, 94(6), 1133-1138.

Laleman, W., Van Landeghem, L., Wilmer, A., Fevery, J., & Nevens, F. (2015). Portal hypertension: from pathophysiology to clinical practice. Liver International, 25(6), 1079-1090.

 

 

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