Tuesday, March 18

Multiple Alleles

Alleles are alternative forms of a gene, and they are responsible for differences in phenotypic expression of a given trait (e.g., brown eyes versus green eyes). A gene for which at least two alleles exist is said to be polymorphic. Instances in which a particular gene may exist in three or more allelic forms are known as multiple allele conditions. It is important to note that while multiple alleles occur and are maintained within a population, any individual possesses only two such alleles (at equivalent loci on homologous chromosomes).

Examples of Multiple Alleles

Two human examples of multiple-allele genes are the gene of the ABO blood group system, and the human-leukocyte-associated antigen (HLA) genes.

The ABO system in humans is controlled by three alleles, usually referred to as IA, IB, and IO (the "I" stands for isohaemagglutinin). IA and IB are codominant and produce type A and type B antigens, respectively, which migrate to the surface of red blood cells, while IO is the recessive allele and produces no antigen. The blood groups arising from the different possible genotypes are summarized in the following table.

GenotypeBlood Group
IA IAA
IA IOA
IB IBB
IB IOB
IA IBAB
IO IOO

HLA genes code for protein antigens that are expressed in most human cell types and play an important role in immune responses. These antigens are also the main class of molecule responsible for organ rejections following transplantations—thus their alternative name: major histocompatibility complex (MHC) genes.

The most striking feature of HLA genes is their high degree of polymorphism—there may be as many as one hundred different alleles at a single locus. If one also considers that an individual possesses five or more HLA loci, it becomes clear why donor-recipient matches for organ transplantations are so rare (the fewer HLA antigens the donor and recipient have in common, the greater the chance of rejection).

Polymorphism in Noncoding Dna

It must be realized that although the above two are valid examples, most genes are not multiply allelic but exist only in one or two forms within a population. Most of the DNA sequence variation between individuals arises not because of differences in the genes, but because of differences in the noncoding DNA found between genes.

An example of a noncoding DNA sequence that is extremely abundant in humans is the so-called microsatellite DNA. Microsatellite sequences consist of a small number of nucleotides repeated up to twenty or thirty times.For instance, the microsatellite composed of the dinucleotide AC is very common, appearing about one hundred thousand times throughout the human genome.

The interesting feature about microsatellites is that they are very highly polymorphic for the number of repeat lengths. For example, one particular individual might possess the microsatellite sequence ACACACACAC at a specific locus on one chromosome, and the sequence ACACACACACACACACAC at the same locus on the other homologous chromosome.

Making Use of Polymorphic Dna

Multiple alleles and noncoding polymorphic DNA are of considerable importance in gene mapping—identifying the relative positions of genetic loci on chromosomes. Gene maps are constructed by using the frequency of crossing-over to estimate the distance between a pair of loci. To obtain a good estimate, one must analyze a large number of offspring from a single cross. In laboratory organisms such as the fruit fly Drosophila, programmed crosses can be carried out so it is possible to use gene loci to construct a reliable genetic map. In humans, this is not the case. For this reason, the more highly variable noncoding regions are of considerable importance in human genetic mapping.

Some Special Cases of Heredity-Inheritance of Human Traits

Some diseases are caused by genetic abnormalities like hemophilia, other diseases may influenced more by genes. For example, a tuberculosis, it is a disease and cannot be inherited but having a weak lungs can be inherited. Some histories of human families known that some diseases and disorders are associated with genes.

>DIABETES
This is likely a disease of my uncle. He is experiencing it right now, and I feel bad about it. This is a disease caused by a dominant gene. It is not equally serious in all people, and I have a proof for that, cause that more than one pair of genes are involved in its inheritance. But now, I don't think so that diabetes may or may not be an inherited disease. In fact, it has been known that viruses may cause diabetes.
>SICKLE-CELL ANEMIA
Incomplete dominant alleles may bring about genetic disorders too. Sickle-cell anemia is inherited as one kind of alleles. It's name hat gotten from the blood cells that often shaped like a sickles.These blood cells that I'm talking about have a limited ability to transport oxygen. In sicle-cell anemia, red blood cells are bent and twisted like sickles while the normal shape is round and flattened. It is caused by a change in one of the polypeptides found in hemoglobin. Hemoglobin is the protein that carries oxygen in red blood cells. A person inflicted with the disease is deprived of oxygen from nervousness etc. If this happens, the molecules in our hemoglobin will join together to form fibers, and these fibers cause the red blood cells to change in shape like a sickle-cell.
>KLINEFELTER'S SYNDROME
When an XY sperm unites with an X, the result is called Klinefelter's Syndrome or sexually underdeveloped male. A person having this syndrome, the testes are small, sperms aren't produce, breast are enlarged etc. It may occur in females. They produce eggs with XX or no sex chromosomes. When an XX egg unites with an Y sperm, will not developed "YO". This is because "YO" is lethal --it means it causes death.
>DOWN'S SYNDROME
Down's syndrome is usually produced by nondisjunction of chromosome 21 during oogenesis and sometimes during spermatogenesis. Where in, the no. of chromosomes is 47 instead of 46 chromosomes which is normal. The extra chromosome is not a sex chromosome but an autosome. Some do not know what's the real meaning of "mongoloids" and I don't know why, but, I want them to know the real meaning of "mongoloids" . "Mongoloids are those who shows mental retardation and have a shorter life expectancy. haha =)
>TURNER'S SYNDROME
Turner's syndrome is also caused by nondisjunction of the sex chromosomes. It results in female who lacks sex chromosomes. The genotype is XO instead of XX.Girls of this syndrome appear normal at birth but throughout their lives are shorter than other normal girls. Women with Turner's syndrome have large necks. Their sex organs and breasts do not develop to the adult stage, it means they are sterile. Klinefelter's syndrome and Turner's syndrome are all disorders of nondisjunction. Nondisjunction is the failure of chromosomes to separate properly during one of the stages of meiosis.

` GENETICS ..ebur .. :]]

G`E`N`E`T`I`C`S

GENETICS, a discipline of biology, is the science of heredity and variation in living organisms. Knowledge of the inheritance of characteristics has been implicitly used since prehistoric times for improving crop plants and animals through selective breeding. However, the modern science of genetics, which seeks to understand the mechanisms of inheritance, only began with the work of Gregor Mendel in the mid-1800s. Although he did not know the physical basis for heredity, Mendel observed that inheritance is fundamentally a discrete process with specific traits that are inherited in an independent manner — these basic units of inheritance are now called genes.
Following the rediscovery of Mendel's observations in the early 1900s, research in 1910s yielded the first physical understanding of inheritance — that genes are arranged linearly along large
cellular structures called chromosomes. By the 1950s it was understood that the core of a chromosome was a long molecule called DNA and genes existed as linear sections within the molecule. A single strand of DNA is a chain of four types of nucleotides; hereditary information is contained within the sequence of these nucleotides. Solved by Watson and Crick in 1953, DNA's three-dimensional structure is a double-stranded helix, with the nucleotides on each strand complementary to each other. Each strand acts as a template for synthesis of a new partner strand, providing the physical mechanism for the inheritance of information.
The sequence of nucleotides in DNA is used to produce specific sequences of
amino acids, creating proteins — a correspondence known as the "genetic code". This sequence of amino acids in a protein determines how it folds into a three-dimensional structure, this structure is in turn responsible for the protein's function. Proteins are responsible for almost all functional roles in the cell. A change to DNA sequence can change a protein's structure and behavior, and this can have dramatic consequences in the cell and on the organism as a whole.
Although genetics plays a large role in determining the appearance and behavior of organisms, it is the interaction of genetics with the environment an organism experiences that determines the ultimate outcome. For example, while genes play a role in determining a person's
height, the nutrition and health that person experiences in childhood also have a large effect.


History of Genetics


Although the science of genetics has its origins in the work of Gregor Mendel in the mid-1800s, various theories of inheritance preceded Mendel. These theories generally assumed that there existed an inheritance of acquired characteristics: the belief that individuals inherit traits that have been strengthened in their parents. Today, the theory is commonly associated with Jean-Baptiste Lamarck, who used this pattern of inheritance to explain the evolution of various traits within species (these changes are now understood to be the product of natural selection rather than a product of soft inheritance).











Mendelian and classical genetics
The modern science of genetics traces its roots to the observations made by
Gregor Johann Mendel, a German-Czech Augustinian monk and scientist who made detailed studies of the nature of inheritance in plants. In his paper "Versuche über Pflanzenhybriden" ("Experiments on Plant Hybridization"), presented in 1865 to the Brunn Natural History Society, Gregor Mendel traced the inheritance patterns of certain traits in pea plants and showed that they could be described mathematically. Although not all features show these patterns of Mendelian inheritance, his work suggested the utility of the application of statistics to the study of inheritance.
The significance of Mendel's observations was not understood until early in the twentieth century, after his death, when his research was re-discovered by other scientists working on similar problems. The word "genetics" itself was coined in 1905 by
William Bateson, a significant proponent of Mendel's work, in a letter to Adam Sedgwick. (The adjective "genetic", derived from the Greek word "genno" γεννώ: to give birth, predates the noun and was first used in a biological sense in 1860.) Bateson publicly promoted and popularized usage of word "genetics" to describe the study of inheritance in his inaugural address to the Third International Conference on Plant Hybridization in London, England, in 1906.
In the decades following rediscovery and popularization of Mendel's work, numerous experiments sought to elucidate the molecular basis of DNA. In 1910 Thomas Hunt Morgan argued that genes reside on chromosomes, based on observations of a sex-linked white eye mutation in fruit flies. In 1913 his student Alfred Sturtevant used the phenomenon of genetic linkage and the associated recombination rates to demonstrate and map the linear arrangement of genes upon the chromosome.




Features of Inheritance




Discrete inheritance and Mendel's laws




At its most fundamental level, inheritance in organisms occurs by means of discrete traits, called "genes". This property was first observed by Gregor Mendel, who studied the segregation of heritable traits in pea plants. In his experiments studying the trait for flower color, Mendel observed that the flowers of each pea plant were either purple or white — and never an intermediate between the two colors. These different, discrete versions of the same gene are called "alleles".
In the case of pea plants, each organism has two alleles of each gene, and the plants inherit one allele from each parent.
Many organisms, including humans, have this pattern of inheritance. Organisms with two copies of the same allele are called "homozygous", while organisms with two different alleles are "heterozygous".
The set of alleles for a given organism is called its
genotype, while the observable trait the organism has is called its "phenotype". When organisms are heterozygous, often one allele is called "dominant" as its qualities "dominate" the phenotype of the organism, while the other allele is called "recessive" as its qualities "recede" and are not observed. Some alleles do not have complete dominance and instead have incomplete dominance by expressing an intermediate phenotype, or codominance by expressing both alleles at once.
When a pair of organisms reproduce sexually, their offspring randomly inherit one of the two alleles from each parent. These observations of discrete inheritance and the segregation of alleles are collectively known as "Mendel's first law" or the "Law of Segregation".




Assortment and Interactions of Multiple Genes




Organisms have thousands of genes, and in sexually reproducing organisms assortment of these genes are generally independent of each other. This means that the inheritance of an allele for yellow or green pea color is unrelated to the inheritance of alleles for white or purple flowers. This phenomenon, known as "Mendel's second law" or the "Law of independent assortment", means that the alleles of different genes get shuffled between parents to form offspring with many different combinations. (Some genes do not assort independently, demonstrating genetic linkage, a topic discussed later in this article.)
Often different genes can interact in a way that influences the same trait. In the
blue-eyed Mary, for example, there exists a gene with alleles that determine the color of flowers: blue or magenta. Another gene, however, controls whether the flowers have color at all: color or white. When a plant has two copies of this white allele, its flowers are white — regardless of whether the first gene has blue or magenta alleles. This interaction between genes is called "epistasis", with the second gene epistatic to the first.
Many traits are not discrete features (eg. purple or white flowers) but are instead continuous features (eg. human height and skin color). These "complex traits" are the product of interactions of many genes. The influence of these genes is mediated, to varying degrees, by the environment an organism has experienced. The degree to which an organism's genes contribute to a complex trait is called "heritability". Measurement of the heritability of a trait is relative, though — in a more variable environment, the environment has a bigger influence on the total variation of the trait. For example, human height is a complex trait with a heritability of 89% in the United States. In Nigeria, however, where people experience a more variable access to good nutrition and health care, height has a heritability of only 62%.







` WAHAHA .. I really learned a lot from this topic.. hehe .. Tenx Ms. STEH ..


` cobra .. oyeah ..

By: Camille Carreon



Genetics condition

What is Tay-Sachs disease?

Tay-Sachs disease is a rare inherited disorder that causes progressive destruction of nerve cells in the brain and spinal cord (the central nervous system).

The most common form of Tay-Sachs disease begins in infancy. Infants with this disorder typically appear normal until the age of 3 to 6 months, when development slows and muscles used for movement weaken. Affected infants lose motor skills such as turning over, sitting, and crawling. They also develop an exaggerated startle reaction to loud noises. As the disease progresses, children with Tay-Sachs disease experience seizures, vision and hearing loss, mental retardation, and paralysis. An eye abnormality called a cherry-red spot, which can be identified with an eye examination, is characteristic of this disorder. Children with this severe infantile form of Tay-Sachs disease usually survive only into early childhood.

Other forms of Tay-Sachs disease are much rarer. Signs and symptoms can begin in childhood, adolescence, or adulthood and are usually milder than those seen with the infantile form of Tay-Sachs disease. As in the infantile form, mental abilities and coordination are affected. Characteristic features include muscle weakness, loss of muscle coordination (ataxia) and other problems with movement, speech problems, and mental illness. These signs and symptoms vary widely among people with late-onset forms of Tay-Sachs disease.

How common is Tay-Sachs disease?

Tay-Sachs disease is very rare in the general population. The genetic mutations that cause this disease are more common in people of Ashkenazi (eastern and central European) Jewish heritage than in those with other backgrounds. In recent years, however, screening for mutations and genetic counseling have made the condition much less frequent in this population.

The genetic mutations that cause Tay-Sachs disease are also more common in certain French-Canadian communities of Quebec, the Old Order Amish community in Pennsylvania, and the Cajun population of Louisiana.

What genes are related to Tay-Sachs disease?

Mutations in the HEXA gene cause Tay-Sachs disease.

The HEXA gene provides instructions for making part of an enzyme called beta-hexosaminidase A, which plays a critical role in the central nervous system. This enzyme is located in cellular structures called lysosomes, which are the cell's recycling centers. Within lysosomes, beta-hexosaminidase A helps break down a fatty substance known as GM2 ganglioside. Mutations in the HEXA gene disrupt the activity of beta-hexosaminidase A, preventing the breakdown of this substance. As a result, it can accumulate to toxic levels in the brain and spinal cord. Progressive damage caused by the buildup of GM2 ganglioside leads to the destruction of nerve cells, which causes the signs and symptoms of Tay-Sachs disease.

Because Tay-Sachs disease impairs the function of a lysosomal enzyme and involves the buildup of GM2 ganglioside, this condition is sometimes referred to as a lysosomal storage disorder or a GM2-gangliosidosis.

Read more about the HEXA gene.

What is Down syndrome?

Down syndrome is a chromosomal condition that is associated with mental retardation, a characteristic facial appearance, and poor muscle tone (hypotonia) in infancy. People with this condition are at an increased risk for heart defects, digestive problems such as gastroesophageal reflux or celiac disease, hearing loss, and cancer of blood-forming tissue (leukemia). Additionally, some people with Down syndrome have reduced activity of the thyroid gland (hypothyroidism). The thyroid gland is a butterfly-shaped organ in the lower neck that produces hormones.

Some evidence indicates that Down syndrome is associated with an increased risk of Alzheimer disease, a degenerative disease of the brain that causes a gradual loss of memory, judgment, and ability to function. Although Alzheimer disease is usually a disorder of late adulthood, in people with Down syndrome the signs and symptoms can appear as early as age 30.

How common is Down syndrome?

Down syndrome occurs in 1 in 800 to 1,000 births. The risk of having a child with Down syndrome increases as a woman gets older.

What are the genetic changes related to Down syndrome?

Down syndrome is related to chromosome 21.

Most cases of Down syndrome result from trisomy 21, which means each cell in the body has three copies of chromosome 21 instead of the usual two copies. The extra genetic material disrupts the normal course of development, causing the characteristic features of Down syndrome. Although the connection between Down syndrome and Alzheimer disease is unclear, researchers believe that an extra copy of a particular gene on chromosome 21, the APP gene, may account for the increased risk.

A small percentage of Down syndrome cases occur when only some of the body's cells have an extra copy of chromosome 21. These cases are called mosaic Down syndrome.

Although uncommon, Down syndrome also can occur when part of chromosome 21 becomes attached (translocated) to another chromosome before or at conception. Affected people have two copies of chromosome 21, plus extra material from chromosome 21 attached to another chromosome. These cases are called translocation Down syndrome.

Read more about chromosome 21.

Can Down syndrome be inherited?

Most cases of Down syndrome are not inherited, but occur as random events during the formation of reproductive cells (eggs and sperm). An error in cell division called nondisjunction results in reproductive cells with an abnormal number of chromosomes. For example, an egg or sperm cell may gain an extra copy of chromosome 21. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have an extra chromosome 21 in each of the body's cells.

Mosaic Down syndrome is also not inherited. It occurs as a random error during cell division early in fetal development. As a result, some of the body's cells have the usual two copies of chromosome 21, and other cells have three copies of the chromosome.

Translocation Down syndrome can be inherited. An unaffected person can carry a rearrangement of genetic material between chromosome 21 and another chromosome. This rearrangement is called a balanced translocation because there is no extra material from chromosome 21. Although they do not have signs of Down syndrome, people who carry this type of balanced translocation are at an increased risk of having children with the condition.

Genetics condition

What is Tay-Sachs disease?

Tay-Sachs disease is a rare inherited disorder that causes progressive destruction of nerve cells in the brain and spinal cord (the central nervous system).

The most common form of Tay-Sachs disease begins in infancy. Infants with this disorder typically appear normal until the age of 3 to 6 months, when development slows and muscles used for movement weaken. Affected infants lose motor skills such as turning over, sitting, and crawling. They also develop an exaggerated startle reaction to loud noises. As the disease progresses, children with Tay-Sachs disease experience seizures, vision and hearing loss, mental retardation, and paralysis. An eye abnormality called a cherry-red spot, which can be identified with an eye examination, is characteristic of this disorder. Children with this severe infantile form of Tay-Sachs disease usually survive only into early childhood.

Other forms of Tay-Sachs disease are much rarer. Signs and symptoms can begin in childhood, adolescence, or adulthood and are usually milder than those seen with the infantile form of Tay-Sachs disease. As in the infantile form, mental abilities and coordination are affected. Characteristic features include muscle weakness, loss of muscle coordination (ataxia) and other problems with movement, speech problems, and mental illness. These signs and symptoms vary widely among people with late-onset forms of Tay-Sachs disease.

How common is Tay-Sachs disease?

Tay-Sachs disease is very rare in the general population. The genetic mutations that cause this disease are more common in people of Ashkenazi (eastern and central European) Jewish heritage than in those with other backgrounds. In recent years, however, screening for mutations and genetic counseling have made the condition much less frequent in this population.

The genetic mutations that cause Tay-Sachs disease are also more common in certain French-Canadian communities of Quebec, the Old Order Amish community in Pennsylvania, and the Cajun population of Louisiana.

What genes are related to Tay-Sachs disease?

Mutations in the HEXA gene cause Tay-Sachs disease.

The HEXA gene provides instructions for making part of an enzyme called beta-hexosaminidase A, which plays a critical role in the central nervous system. This enzyme is located in cellular structures called lysosomes, which are the cell's recycling centers. Within lysosomes, beta-hexosaminidase A helps break down a fatty substance known as GM2 ganglioside. Mutations in the HEXA gene disrupt the activity of beta-hexosaminidase A, preventing the breakdown of this substance. As a result, it can accumulate to toxic levels in the brain and spinal cord. Progressive damage caused by the buildup of GM2 ganglioside leads to the destruction of nerve cells, which causes the signs and symptoms of Tay-Sachs disease.

Because Tay-Sachs disease impairs the function of a lysosomal enzyme and involves the buildup of GM2 ganglioside, this condition is sometimes referred to as a lysosomal storage disorder or a GM2-gangliosidosis.

Read more about the HEXA gene.

What is Down syndrome?

Down syndrome is a chromosomal condition that is associated with mental retardation, a characteristic facial appearance, and poor muscle tone (hypotonia) in infancy. People with this condition are at an increased risk for heart defects, digestive problems such as gastroesophageal reflux or celiac disease, hearing loss, and cancer of blood-forming tissue (leukemia). Additionally, some people with Down syndrome have reduced activity of the thyroid gland (hypothyroidism). The thyroid gland is a butterfly-shaped organ in the lower neck that produces hormones.

Some evidence indicates that Down syndrome is associated with an increased risk of Alzheimer disease, a degenerative disease of the brain that causes a gradual loss of memory, judgment, and ability to function. Although Alzheimer disease is usually a disorder of late adulthood, in people with Down syndrome the signs and symptoms can appear as early as age 30.

How common is Down syndrome?

Down syndrome occurs in 1 in 800 to 1,000 births. The risk of having a child with Down syndrome increases as a woman gets older.

What are the genetic changes related to Down syndrome?

Down syndrome is related to chromosome 21.

Most cases of Down syndrome result from trisomy 21, which means each cell in the body has three copies of chromosome 21 instead of the usual two copies. The extra genetic material disrupts the normal course of development, causing the characteristic features of Down syndrome. Although the connection between Down syndrome and Alzheimer disease is unclear, researchers believe that an extra copy of a particular gene on chromosome 21, the APP gene, may account for the increased risk.

A small percentage of Down syndrome cases occur when only some of the body's cells have an extra copy of chromosome 21. These cases are called mosaic Down syndrome.

Although uncommon, Down syndrome also can occur when part of chromosome 21 becomes attached (translocated) to another chromosome before or at conception. Affected people have two copies of chromosome 21, plus extra material from chromosome 21 attached to another chromosome. These cases are called translocation Down syndrome.

Read more about chromosome 21.

Can Down syndrome be inherited?

Most cases of Down syndrome are not inherited, but occur as random events during the formation of reproductive cells (eggs and sperm). An error in cell division called nondisjunction results in reproductive cells with an abnormal number of chromosomes. For example, an egg or sperm cell may gain an extra copy of chromosome 21. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have an extra chromosome 21 in each of the body's cells.

Mosaic Down syndrome is also not inherited. It occurs as a random error during cell division early in fetal development. As a result, some of the body's cells have the usual two copies of chromosome 21, and other cells have three copies of the chromosome.

Translocation Down syndrome can be inherited. An unaffected person can carry a rearrangement of genetic material between chromosome 21 and another chromosome. This rearrangement is called a balanced translocation because there is no extra material from chromosome 21. Although they do not have signs of Down syndrome, people who carry this type of balanced translocation are at an increased risk of having children with the condition.