It is common knowledge that a person's appearance -- height, hair color, skin color, and eye color -- are determined

by genes. Mental abilities and natural talents are also affected by heredity, as is the susceptibility to acquire certain diseases. An inherited, abnormal trait (anomaly) may:
  

Have no consequence to a person's health or well being -- for example, a white patch of hair or an extended ear lobe. Be of minor consequence -- for example, color blindness. Have dramatic effect on the quality or length of life.

For most genetic disorders, genetic counseling is advised. Many people may also want to seek prenatal diagnosis. The terms anomaly, abnormality, disorder, defect, disease, and syndrome are not used consistently, and do not have precise definitions.

Alternative Names
Homozygous; Inheritance; Heterozygous; Inheritance patterns; Heredity and disease; Heritable; Genetic markers

Human beings have cells with 46 chromosomes -- 2 sex chromosomes and 22 pairs of autosomal (non-sex) chromosomes. Males are "46, XY" and females are "46, XX". These chromosomes are made up of extremely long DNA molecules in combination with proteins. Genes are defined by intervals along one of the DNA molecules. The location of the gene is called the locus. Most genes carry information which is necessary to make a protein. The pairs of autosomal chromosomes (one from the mother and one from the father) carry basically the same information. That is, each has the same genes, but there may be slight variations of these genes. These slight differences occur in less than 1% of the DNA sequence and produce variants of a particular gene that are called alleles. The information contained in the nucleotide sequence of a gene is transcribed to mRNA (messenger RNA) by enzymes in the cell's nucleus and then translated to a protein in the cytoplasm. This protein may be a part of tissue. It may be an enzyme which in involved in a chemical reaction, or it may be a hormone. There are also many other potential functions for proteins. If a gene is abnormal, it may lead to an abnormal protein or an abnormal amount of a normal protein. Since the autosomal chromosomes are paired, there are 2 copies of each gene, one from each parent. If one of these genes is defective, the other may make enough protein, so that no disease is seen. This is called a recessive disease, and the gene is said to be inherited in a recessive pattern.

of showing the disease. chromosomal disorders. If a child receives an abnormal recessive disease gene from both parents. if only one abnormal gene is needed to produce a disease.but the gene can frequently be identified by sensitive laboratory tests.this is called a pedigree. A phenotype expressed in the same way (in both homozygotes and heterozygotes) is dominant. Each affected child of an affected parent has a 50% chance of inheriting the disease. but the importance of that component varies. In the case of a dominant disorder. then each child has a 50% chance of being homozygous. The affected individual that is first seen (or is of immediate interest) is called the proband. can be classified as single gene defects. Genetic Disorders Almost all diseases have a genetic component. Single gene defects are rare. Single-gene disorders are characterized by the pattern of transmission in families -. with a frequency of less than 1 in 200 births. But since there are about 6. their combined impact is significant. the abnormality or abnormalities usually appear in every generation. . Heterozygotes for a recessive gene are called carriers. the child will show the disease and will be HOMOZYGOUS for that gene. There are five basic patterns of single gene inheritance:      Autosomal dominant Autosomal recessive X-linked dominant X-linked recessive Maternal (mitochondrial) inheritance The observed effect of a gene (the appearance of a disorder) is called the phenotype. then each child has a 25% chance of being homozygous for that gene and therefore. A person with one abnormal gene is termed HETEROZYGOUS for that gene. The term "kindred" includes the relatives outside of the immediate nuclear family. In AUTOSOMAL DOMINANT INHERITANCE.000 known single gene disorders.However. it's called a dominant hereditary disorder. A phenotype expressed only in homozygotes (or. A single gene disorder (also called Mendelian disorder) is one that is determined by a single genetic locus and the specific allele on one or both members of a chromosome pair. The brothers and sisters of the proband are called siblings. If one parent is homozygous and the other heterozygous. If two parents are each heterozygous for a particular recessive disease gene. if one abnormal gene is inherited from mom or dad. The incidence of serious single gene disorders is estimated to be about 1 in 200 births. so-called genetic diseases. Carriers usually don't show the disease. Disorders where genetics play an important role. or multifactorial. expressed in males but not females) is recessive. for X-linked traits. the child will likely show the disease.

Males and females are equally likely to be affected.In AUTOSOMAL RECESSIVE INHERITANCE. Because most recessive disorders are rare. Since males pass the Y chromosome to their sons. sometimes called the "boy in a bubble" disease X-linked recessive:   Duchenne muscular dystrophy Hemophilia A Autosomal dominant:   Familial hypercholesterolemia Huntington's disease X-linked dominant: Only a few. On average. males do not transmit it to their sons -. affected males will not have affected sons. Since the abnormal gene is carried on the X chromosome. the parents of an affected individual may not express the disease. Examples of Single Gene Disorders Autosomal recessive:      Cystic fibrosis (CF) Phenylketonuria (PKU) Alpha-1-antitrypsin (AAT) deficiency Sickle cell anemia ADA deficiency. almost all of the daughters of an affected man appear normal. Related individuals are more likely to have inherited the same rare gene from a common ancestor. but they are all carriers of the abnormal gene. disorders are classified as X-linked dominant. One of these is hypophosphatemic rickets. the child must receive the defective gene from BOTH parents. but all of their daughters will be affected. For a child to have symptoms of an autosomal recessive disorder.they do transmit it to their daughters. In X-LINKED DOMINANT INHERITANCE. Sons or daughters of affected females will have a 50% chance of getting the disease. a child is at increased risk of a recessive disease if the parents are related. also called vitamin D -resistant rickets. The presence of one normal X chromosome masks the effects of the X chromosome with the abnormal gene. In X-LINKED RECESSIVE INHERITANCE. a rare immunodeficiency disorder. the presence of the defective gene appears in females even if there is also a normal X chromosome present. The sons of these daughters then have a 50% chance of receiving the defective gene. So. . very rare. the incidence of the disease is much higher in males than females. the chance of an affected child's brothers or sisters having the disease are 1 in 4.

Chromosomal disorders include:    Down syndrome Klinefelter syndrome Turner syndrome Multifactorial Disorders Many of the most common diseases. more than 20 hereditary disorders have been shown to result from mutations in mitochondrial DNA. the defect is due not to a single gene. and gastrointestinal problems. developmental delay. hypertension. In recent years. to the common currency of energy inside cells (ATP). and various kinds of cancer. stroke. but to an excess or deficiency of the genes contained in a whole chromosome or chromosome segment. heart rhythm problems. involve interactions of several genes. including coronary heart disease. short stature. These are currently active areas of research. hearing loss. Because mitochondria come only from the egg. in the presence of oxygen. Mitochondrial DNA-Linked Disorders Mitochondria are small organelles present in most of the body's cells which function in the conversion of certain chemicals in our food. most mitochondria-related disorders are inherited exclusively from the mother. blindness. Mitochondria contain their own private DNA. .Chromosomal Disorders In chromosomal disorders. Mitochondrial disorders can appear at any age with a wide variety of non-specific symptoms and signs. These disorders may cause metabolic disturbances.

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