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Genetic Diseases

A genetic disease or disorder is a condition caused by abnormal genes or chromosomes. Some of the more common genetic diseases are Angelman syndrome, celiac disease, cystic fibrosis, Down syndrome, hemophilia, Klinefelter syndrome, sickle-cell disease, and Turner syndrome.

518 Questions

What are the demographics of tuberous sclerosis?

TS has been reported in all ethnic groups and races with equal frequency.

Why do you use spinach leaf for DNA extraction?

Spinach leaves are commonly used for DNA extraction because they contain a high amount of DNA compared to other plant sources. Additionally, spinach leaves are easy to work with and do not require specialized equipment for extraction.

What causes disorders such as klinefelter syndrome and turner syndrome?

Klinefelter syndrome is a chromosomal condition that only affects males and is characterized by a male having an additional X chromosome (XXY) in cells. This chromosome abnormality occurs when there is an error in cell division, resulting in an extra copy of the X chromosome.

What kind of genetic disease is blindness?

Blindness can be caused by a variety of genetic diseases, such as retinitis pigmentosa, Leber congenital amaurosis, and glaucoma. These conditions can be inherited in different patterns, such as autosomal recessive, autosomal dominant, or X-linked. Genetic testing can help identify the specific genetic cause of blindness in an individual.

What does insulin pick up from the blood stream?

Insulin helps move glucose from the bloodstream into cells to be used for energy. It also helps to regulate blood sugar levels by promoting the storage of excess glucose in the liver and muscles as glycogen. Additionally, insulin plays a role in promoting the storage of fats and proteins.

Why is Yeast rather unusual family of fungi?

Yeast is a unique family of fungi because they are single-celled organisms, unlike most fungi that are multicellular. Yeasts primarily reproduce asexually by budding, and some can ferment sugars to produce alcohol and carbon dioxide. They are important in biotechnology and food production due to their ability to ferment sugars.

What are characteristics of Turners syndrome?

Depending on the type of Turner syndrome a person has, their karyotype is either:

45X - classic Turner syndrome - second X chromosome missing from all cells

45X/46XX - Mosaic Turner syndrome - second X chromosome missing from some cells.

There is another type of Turner syndrome, but it has a more complicated karyotype and I am not sure what the karyotype is off the top of my head.

Does turner's syndrome occur in all cells?

No, only the gametes would be indicative of sterility. It is possible that the individual (though incredibly rare) to have "chimera" syndrome, where two non-identical twins merge to form one fetus. Turner's Syndrome is the absence of the male sex chromosome BTW. That chromosome carries little genetic information, and is possible during mitosis to "loose" it, but still create a mostly viable cell.

Is M1 and F1 generations same in the mendelian cross?

No, the M1 generation refers to the parent generation, or original purebred parental lines, in a Mendelian cross. The F1 generation, on the other hand, refers to the first-generation offspring resulting from the cross between the parental lines.

What happens when a cell have too few insulin?

When a cell has too little insulin, it can lead to high blood sugar levels because insulin helps cells absorb glucose from the bloodstream. This can result in symptoms such as excessive thirst, frequent urination, fatigue, and weight loss. Over time, consistently high blood sugar levels can damage organs and lead to complications like nerve damage, cardiovascular disease, and kidney problems.

What from of energy does a plant use to grow?

Photosynthetic energy is one type of energy used in plants. It is an energy that comes from light. This also depends on the type of light the plant gets.

What is logarithmic growth in cells?

Logarithmic growth in cells is a phase where cell populations grow at a constant rate over time. During this phase, cells divide and proliferate exponentially. This phase is often characterized by a regular doubling of cell numbers over fixed time intervals.

Is cleft lip and palate autosomal or sex linked?

Cleft lip and palate is usually considered a multifactorial condition caused by a combination of genetic and environmental factors. There have been associations with certain genes on autosomes, but it is not solely determined by inheritance patterns like autosomal or sex-linked traits.

WHAT race does Marfan syndrome affect?

it affects all races and all ages

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While just about every human can be either a carrier or posses Marfan Syndrome itself, animals can be effected as well.

Which combination of sex chromosomes results in Turner syndrome?

Turner syndrome is typically caused by the presence of a single X chromosome in an individual, leading to a 45,X karyotype, where one of the sex chromosomes is missing or incomplete. This condition is more commonly seen in females.

Why does chlorosis occur in plants?

Chlorosis in plants occurs when there is a lack of chlorophyll, resulting in yellowing of the leaves. This can be caused by nutrient deficiencies, such as nitrogen or iron, or environmental factors like poor soil drainage or alkalinity. Chlorosis affects the plant's ability to photosynthesize and can impact its overall health and growth.

What do you mean by hetrozygous?

Heterozygous refers to an individual having two different alleles for a particular gene. In heterozygous individuals, one allele is dominant and the other is recessive, and the dominant allele typically determines the organism's phenotype.

Why can females only be carriers of sex-linked recessive traits?

Sex-linked traits (with some exceptions) are only carried on the X chromosome. Females have two X chromosomes while males only have one. Because males only have one, they will either have the trait or they won't, but they can't be carriers. Females can have one chromosome that can have the dominant trait and the other can have the recessive trait - making this female a carrier.

A patient has a rare genetic disease What might doctors use to treat her?

Doctors may consider gene therapy, enzyme replacement therapy, or medication to manage symptoms. Genetic counseling and support services may also be provided to the patient and her family.

Is it true that women have some protection from genetic disease because they carry only x chromosomes?

Yes, women have two X chromosomes which provides them with a backup copy of certain genes. This can offer some protection from genetic diseases that are caused by mutations in genes on the X chromosome, as women have a second copy that may compensate for any abnormalities.

What is the genetic disease caused by maternal nondisjunction of autosome 21?

The genetic disease caused by maternal nondisjunction of autosome 21 is Down syndrome. It is characterized by intellectual disability, distinct facial features, and certain medical conditions such as heart defects and gastrointestinal issues. This genetic condition occurs when an individual has an extra copy of chromosome 21, leading to developmental delays and health problems.

The rare genetic disorders Menkes disease and Wilson's disease result from abnormal utilization of?

Menkes disease results from abnormal utilization of copper, leading to a copper deficiency that affects various body functions. In contrast, Wilson's disease results from abnormal utilization of copper, causing a buildup of copper in the body, particularly in the liver and brain, which can lead to various symptoms and complications.

Are klinefelter syndrome and Turner syndrome results of nondisjunction of autosomes?

No, Klinefelter syndrome and Turner syndrome are the result of nondisjunction of sex chromosomes. Klinefelter syndrome is caused by an extra X chromosome (XXY), while Turner syndrome is due to a missing X chromosome (XO).

Can a person be a carrier for a genetic disease if neither or only one of their parents are carriers?

Yes, it is possible for a person to be a carrier for a genetic disease even if neither of their parents are carriers. This can occur if the person has a new mutation in the gene associated with the disease. Carriers have one copy of the mutated gene, which they can pass on to their children.