Genetic disorders pdf

View in own window. Several different methods are currently used in genetic testing laboratories. The type of test will depend on the type of abnormality that is being measured. In general, three major types of genetic testing are available—cytogenetic, biochemical, and molecular testing to detect abnormalities in chromosome structure, protein function, or DNA sequence, respectively.

Cytogenetics involves the examination of whole chromosomes for abnormalities. Chromosomes of a dividing human cell can be clearly analyzed under a microscope. White blood cells, specifically T lymphocytes, are the most readily accessible cells for cytogenetic analysis since they are easily collected from blood and are capable of rapid division in cell culture.

Cells from other tissues such as bone marrow for leukemia , amniotic fluid prenatal diagnosis , and other tissue biopsies can also be cultured for cytogenetic analysis. Following several days of cell culture, chromosomes are fixed, spread on microscope slides and then stained.

The staining methods for routine analysis allow each of the chromosomes to be individually identified. The distinct bands of each chromosome revealed by staining allow for analysis of chromosome structure. The enormous numbers of biochemical reactions that routinely occur in cells require different types of proteins. Several classes of proteins exist to fulfill the multiple functions, such as enzymes, transporters, structural proteins, regulatory proteins, receptors, and hormones.

A mutation in any type of protein can result in disease if the mutation ultimately results in failure of the protein to correctly function see Table 2. Clinical testing for a biochemical disease utilizes techniques that examine the protein instead of the gene. Depending on the function, tests can be developed to directly measure protein activity enzymes , level of metabolites indirect measurement of protein activity , and the size or quantity of protein structural proteins.

These tests require a tissue sample in which the protein is present, typically blood, urine, amniotic fluid, or cerebrospinal fluid. For small DNA mutations, direct DNA testing may be the most effective method, particularly if the function of the protein is not known and a biochemical test cannot be developed. A DNA test can be performed on any tissue sample and require very small amounts of sample.

For some genetic diseases, many different mutations can occur in the same gene and result in the disease, making molecular testing challenging. About Familial Mediterranean Fever. About Huntington's Disease. About Inborn Errors of Metabolism. About Parkinson's Disease. About Severe Combined Immunodeficiency. About Velocardiofacial Syndrome.

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Did you find this document useful? Is this content inappropriate? Report this Document. Flag for inappropriate content. Download now. Related titles. Carousel Previous Carousel Next. Jump to Page. Search inside document. The reason the mucus is thick, is that the body is unable to transport water and salt across the cell membrane Mode of Inheritance: Autosomal recessive for CFTR gene Most common in Europeans Diagnosis People with cystic fibrosis have times the normal amount of salt in their sweat.

Fibrodysplasia ossificans progressiva rare genetic disease that causes muscle to be turned into bone. Klinefelters Syndrome Symptoms: have internal male ducts and genitalia; but underdeveloped testes that fail to produce sperm; feminine sexual development is not suppressed, so these men have slightly developed breasts Mode of Inheritance: Trisomy of sex chromosome XXY Remember these result due to nondisjunction during meiosis Diagnosis: diagnosed in adulthood using a karyotype, an analysis of the patient's chromosomes taken from a blood sample.

Treatment Hormone replacement therapy is the best way to treat this disorder. Mode of Inheritance autosomal recessive Diagnosis: tests can show if the newborn infant has sickle cell anemia or carries the sickle cell trait. Trisomy 18 Edwards Syndrome Symptoms Infants are small with elongated skulls ears are set low and are malformed webbed neck congenital dislocation of hips receding chin Prognosis: Survival time is normally less than 4 months.

Turner Syndrome Symptoms: females are short in stature , infertile; there is no connection with mental retardation, only learning difficulties; skeletal abnormalities, heart and kidney abnormalities; thyroid disfunction; the external genitalia are female, but the ovaries are rudimentary Mode of Inheritance Monosomy; nondisjunction of sex chromosomes during meiosis Complete are partial absence of two X chromosomes XO ; mostly resulting in missing genetic material on the X chromosome; Diagnosis blood sample can be used to make a karyotype a chromosome analysis and the diagnosis can be confirmed.

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