A Study of Genetic Disorders

The P1 cross was between four wmf females and nine wild-type males. The F1 progeny consisted of 12 wild-type females, and four triple-mutant males. The P2 cross resulted in 13 females, and 3 males, all with the wild-type phenotype (Table 1). The two parental crosses identify that the mutations are X-link recessive. The triple-mutant females of the P1 cross produce mutant male offspring, but wild-type females. The F1 females would be heterozygous for the mutations, but don’t express the mutations because they still have a wild-type X chromosome. However, the F1 males only have one X chromosome that comes from a mutant mother. The offspring for P1 were crossed again to make and F1 cross. The F1 cross would be X+/Y and X+/X. The F1 cross resulted in 100 F2 progenies over the course of 7 days.

Cystic Fibrosis (CF) is the most common and fatal genetic disease currently in the United States, affecting roughly 30,000 Americans each year (National Human Genome Research Institute, 2013). CF is an autosomal inherited disease that adversely affects the mucus and it’s production throughout the entire body. Mucus is normally a slippery substance that lubricates and protects vital organs and body systems including the lining of airways, reproductive system and digestive systems. Patients who are diagnosed with CF actually have mucus that is abnormally sticky and thick, which places them at a high risk for severe pulmonary, digestive, and reproductive problems. Specifically regarding the pulmonary system CF patients often develop clogged airways, leading to bacterial infections and breathing abnormalities such as chronic coughing, wheezing, inflammation and lung damage. As a result of this recurrent and problematic, this places the patient at an increased risk for permanent lung damage and disease. Over time due to recurrent, chronic lung infections the characteristic of the lungs begin to change as more and more scar tissue develop making them fibrotic and develop cysts.

The reading shows disease and inheritance in an entirely new light. It introduces the idea that genetically inherited diseases may have been selected for, which means that they must provide certain evolutionary advantages. It reorients the reader’s perspective about a disease like hemochromatosis, which has the potential to be incredibly harmful and even deadly, establishing that it may have once provided protection from the bubonic plague, making it an advantageous trait. This brings other genetic diseases into question, examining why diseases that appear to be harmful have not been eliminated from the gene pool. The idea that a disease that is harmful and dangerous in modern times could have once been a beneficial adaptation is very interesting.

Just as chromosomal abnormalities cause the majority of miscarriages, certain chromosomal and congenital conditions can increase the risk that a baby will be

Knowing that your child has a birth defect or an abnormality can make the delivery very emotional. An older woman trying to deliver a baby may also have more difficulty with the delivery depending on how healthy and in shape she is. That may also affect the labor process as well and how fast it will go. Although, the most common birth defect in children with mothers of an advanced maternal age is Down syndrome. Down syndrome occurs from a chromosomal defect. The mother must also be motivated to keep herself healthy in good shape during and before the pregnancy (if planning to get pregnant). The mother must want to maintain a good health status in order to make the pregnancy a successful one, no matter the age. She must follow all the doctor’s orders and go to her regular check ups as needed. Usually, by not following the doctor’s orders is where abnormalities and defects can occur. The doctors make the mother aware of the consequences that can happen when they don’t do what is asked of them during the pregnancy and what can happen if they do the complete opposite. The complete opposite would be eating bad, not caring about their health status at all, not drinking enough water or drinking an excessive amount of sugary or alcoholic beverages, smoking, using drugs, not taking the pre-natal vitamins, and not exercising as much as they could be. All of these things can result in

Cystic Fibrosis (CF) is an autosomal recessive genetic disorder most commonly found amongst the Caucasian population. In the United States, the reported prevalence of CF for the Caucasian population is 1:3200, for African American is 1:15000 and for Asian American is 1:310001.

Whether your child ends up with a medical condition will depend on several factors, including what genes they inherit”

Chromosomes are located in the nucleus of all human body cells. There are a total of 23 pairs (46 total) of chromosomes in the human body. Each individual chromosome has a homologous pair, which is an exact copy, of that chromosome. All chromosomes vary in size and range. Typically, the first row that is show in a karyotype are the largest chromosomes and they get increasingly smaller (Reece). There are about 198 million pairs of chromosome 3 within a body (Chromosomes). Each chromosome has a variety of genes located in different positions throughout. Genes are what get passed down from parent to offspring (Reece). Chromosome 3 has about 1,000-1,100 genes located sporadically across the chromosome. A few examples of genes on chromosome 3 could

Syndromes and deformations occur while the child is still in the womb of the mother. Syndromes such as, Edwards Syndrome, Klinefelter's Syndrome, Bloom Syndrome, and Turner Syndrome, research shows that a variety of these deformations occur with complications regarding the chromosomes( shown on karyotype chart). Most of these complications are not hereditary or genetically passed through the parents. All though these syndromes are not hereditary or genetically passed the life expectancy of these unfortunate beings goes no higher than twenty-seven years, some do not even survive childbirth.

For one, a developing fetus can suffer brain defects like spina bifida or anencephaly and may contribute to certain

Post-OLT GVHD poses a diagnostic challenge and may be under-diagnosed due to the lack of specific clinical or histopathologic features. Early diagnosis of GVHD is important to decrease the severity of infections as well as mortality rate. The diagnosis may be delayed, because similar presentations can be seen with drug reactions and bacterial or viral infections. Diagnosis is made on the basis of clinical and histological evidence and the presence of chimerism. Post-OLT GVHD can be classified into four stages based on the clinical sign and symptoms. (Table-2) Serologic and molecular techniques have been used to diagnose post-transplant GVHD. Due to the nonspecific features of rash and other clinical symptoms, chimerism is an important investigation to confirm OLT related GVHD, in the presence

A sex-linked trait is one that is associated with the genes on the sex chromosomes of an individual; the non-homologous X and Y chromosomes. A trait related specifically to the X chromosome (X-linked) can be passed to females and males since each gender will inherit at least one X chromosome from his/her mother. However, only males can inherit traits linked to the Y chromosome since those inheriting a Y chromosome are inherently male.

In conclusion, genetic disorders are diseases that are caused genetic mutations. The increase of genetic disorders in the Middle East contributes to the fact that the rates of inbreeding are often high, high maternal age, and the increase of the marriage of carriers. Genetic disorders do not only affect the patient physically, but it can also affect psychologically. Schools and the media should be used to improve understanding of genetic diseases among health professionals and the public to raise awareness and educate people about genetic disorders. In addition, pre-marital screening must be obligatory to direct the Middle East towards a healthy society that is free of genetic disorders.

Drugs, smoking, binge drinking are few of the most causes of baby deformities and defects. They have chemicals that largely affect the healthiness of your sperms. Moderation is better than nothing, but abstinence is the key to success.

Due to a combination of factors such as better access to contraceptives, the age at which a fathers first child is conceived has followed an upward trend in recent years. Lots of research has been done into the effect of maternal age on offspring health, with the public’s general knowledge of the link between Trisomy 21 and maternal age testimony to this, however the risks that increased paternal age imply are less well documented and well known. Increasing paternal age has in fact been linked to several birth defects, of which the focus of this essay will be on genetic mutations leading to a combination of physical and neuro-cranial diseases.