The cystic fibrosis gene is found

Article Abstract:

Cystic fibrosis is a disease of the glands, characterized by abnormally thick secretion of mucous. Patients are extremely susceptible to lung infections, which can lead to death. Most patients with cystic fibrosis usually die before they are 13 years old. Cystic fibrosis is an inherited disease that occurs in one out of every 2,000 children born in the US. The gene for cystic fibrosis was recently located in DNA of affected individuals; DNA contains the codes for the sequences of molecules involved in life processes. The cystic fibrosis gene was difficult to find, as it is not located near any other gene whose location is known. If two genes are located close to each other, they will generally be inherited together. This would serve as a marker to identify the location of the unknown gene. Since researchers have now found the gene, they will be able to understand what happens in the disease state, and this may lead to treatments for the disease and its eventual eradication. The researchers think the gene for cystic fibrosis codes for a molecule that is involved in the transport of ions, electrically charged molecules, across the membranes of cells. This can result in the retention of fluid in the cells, which may be the reason why the mucous in cystic fibrosis is so thick. In 70 percent of the cases studied, a particular amino acid, one of the building blocks of protein molecules, was lost. Researchers now need to determine how this change causes the protein to malfunction. The cystic fibrosis gene will also be used to detect carriers of the disease and to make prenatal diagnoses of cystic fibrosis. If two parents carry the defective gene, they have a 25 percent chance of having a baby with cystic fibrosis.

Chromosome mapping, Cystic fibrosis, Tsui, Lap-Chee, Collins, Francis S.

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Molecular genetics of human blue cone monochromacy

Article Abstract:

Blue cone monochromacy is a rare disorder of color vision, resulting from the absence or malfunction of the red and green photoreceptors, or cones. For normal color vision, people rely on a combination of three photoreceptors, red, green and blue. The genetic basis for blue cone monochromacy was examined. Samples of DNA, deoxyribose nucleic acid, which contain the genetic information coding for molecules involved in life processes, were obtained from 12 families with blue cone monochromacy. Blue cone monochromacy is an X-chromosome-linked, recessively inherited trait, inherited from the mother and present only in males. The DNA present in or adjacent to the genes coding for the red and green pigments was rearranged or changed from its normal state, resulting in the loss of function of these genes and the pigment for which the genes code. This abnormality results in color blindness. Two pathways were found causing the changes in the genes. The first pathway contained two steps. The first step resulted in the reduction of the two genes coding for the red and green pigments to one gene. The second step was the inactivation of the remaining gene by mutation or change. The second pathway leads to the loss of the function of both the red and green pigment genes by a deletion or loss of a large portion of DNA near the genes. This portion of DNA is probably necessary for the function of the red and green pigment genes. The understanding of why there is a functional loss of molecules which are involved in a disease or disorder may be one of the first steps in correcting the changes and eliminating or treating the disease.

Color blindness, Molecular genetics

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Identifying tumor suppressor genes in human colorectal cancer

Article Abstract:

The gene is the basic unit of heredity and occurs in pairs called alleles in the chromosomes, thread-like structures in the nucleus of the cell. Cancer research is currently focused on the role of oncogenes and tumor suppressor genes in the pathogenesis of various types of cancer. Oncogenes are genes that can induce a cell to become malignant, whereas tumor suppressor genes serve to prevent cells from transforming into cancerous cells. The most intensively studied human cancer is colorectal cancer because each step in the development of this cancer can be easily identified. Genetic studies have shown that the development of colorectal cancer involves the activation of the Ki-ras oncogene in 40 to 50 percent of the cases, and also the loss of genetic information, most likely tumor suppressor genes, from chromosome five in 35 percent of the cases, chromosome 17 in 70 percent of the cases and chromosome 18 in 70 percent of the cases. The genes on chromosome 5 may also be linked to familial adenomatous polyposis, the development of polyps or tumor-like growths in the colon, a condition that predisposes to colorectal cancer. Recent studies have identified the tumor suppressor genes p53 on chromosome 17 and the deleted in colorectal cancer (DCC) gene on chromosome 18. The DCC gene is related to genes controlling cell surface interactions; disorders in cell attachment and cell communication are critical events in the development of cancer. A better understanding of the genetic basis of colorectal cancer will contribute to the improvement of diagnosis and treatment of this disease.

Colorectal cancer, Suppression, Genetic, Suppressor mutation (Molecular genetics), Oncogenes, column, Human chromosome abnormalities

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