Proteins are the building blocks for everything in your body. Bones and teeth, hair and earlobes, muscles and blood, are all made up of proteins. Those proteins help our bodies grow, work properly, and stay healthy. Scientists today estimate that each gene in the body may make as many as 10 different proteins. That's more than , proteins! Like chromosomes, genes also come in pairs.
Each of your parents has two copies of each of their genes, and each parent passes along just one copy to make up the genes you have. Genes that are passed on to you determine many of your traits, such as your hair color and skin color.
Maybe Emma's mother has one gene for brown hair and one for red hair, and she passed the red hair gene on to Emma. If her father has two genes for red hair, that could explain her red hair. Emma ended up with two genes for red hair, one from each of her parents.
You also can see genes at work if you think about all the many different breeds of dogs. They all have the genes that make them dogs instead of cats, fish, or people. But those same genes that make a dog a dog also make different dog traits. So some breeds are small and others are big.
Some have long fur and others have short fur. Dalmatians have genes for white fur and black spots, and toy poodles have genes that make them small with curly fur. You get the idea! Scientists are very busy studying genes. They want to know which proteins each gene makes and what those proteins do.
They also want to know what illnesses are caused by genes that don't work right. Genes that have been changed are called mutations. Researchers think that mutations may be partly to blame for lung problems, cancer, and many other illnesses. Other illnesses and health problems happen when there are missing genes or extra parts of genes or chromosomes. Some of these gene problems can be inherited from a parent. For example, take the gene that helps the body make hemoglobin say: HEE-muh-glow-bin.
Hemoglobin is an important protein needed for red blood cells to carry oxygen throughout the body. If parents pass on altered hemoglobin genes to their child, the child might only be able to make a type of hemoglobin that doesn't work properly. This can cause a condition known as anemia say: uh-NEE-mee-uh , a condition in which a person has fewer healthy red blood cells.
Sickle cell anemia is one kind of anemia that is passed on through genes from parents to children. Parents with a changed CF gene can pass it on to their kids. People who have CF often have trouble breathing because their bodies make a lot of mucus say: MYOO-kus — the slimy stuff that comes out of your nose when you're sick — that gets stuck in the lungs.
People with CF need treatment throughout their lives to keep their lungs as healthy as possible. Gene therapy is a new kind of medicine — so new that scientists are still doing experiments to see if it works. It uses the technology of genetic engineering to treat a disease caused by a gene that has changed in some way.
One method being tested is replacing sick genes with healthy ones. Angelman syndrome may be suspected if a child's development is delayed and they have the syndrome's distinctive characteristics.
A blood test is used to confirm the diagnosis. Several genetic tests will be done on the blood sample. These tests look for:. For each child with Angelman syndrome, it's important to know the genetic change that caused the condition.
This helps to determine whether there's a chance you might have another child with Angelman syndrome. Most children with Angelman syndrome are diagnosed between the ages of 9 months to 6 years, when physical and behavioural symptoms become apparent. If your child is diagnosed with Angelman syndrome, you will be able to talk to a genetic doctor about what support they might need. In later childhood, the seizures usually improve, although they may return in adulthood.
With age, people with Angelman syndrome become less hyperactive and may sleep better. Most people with the syndrome will have learning disability and limited speech throughout their life. In adults, some mobility may be lost and joints may stiffen. People with Angelman syndrome usually have good general health and are often able to improve their communication and acquire new skills. While there's currently no cure for Angelman syndrome, research into treatments is being done in other countries.
There are also clinical trials looking at treatment for some of the symptoms associated with Angelman syndrome, such as seizures. AngelmanUK is a charity providing information and support for parents and carers of people with Angelman syndrome. You can call their helpline to speak with parents of people with Angelman syndrome, who can offer you advice and support.
The website includes a section for parents who have a child who has recently been diagnosed with Angelman syndrome. You can opt out of the register at any time. Page last reviewed: 30 September Next review due: 30 September Angelman syndrome. Characteristics of Angelman syndrome A child with Angelman syndrome will begin to show signs of delayed development at around 6 to 12 months of age, such as being unable to sit unsupported or make babbling noises.
These include: frequent laughter and smiling, often with little stimulus being easily excitable, often flapping the hands being restless hyperactive having a short attention span trouble sleeping and needing less sleep than other children a particular fascination with water By around 2 years of age, a small head which is flat at the back microbrachycephaly may be noticeable in some children with Angelman syndrome. Other possible features of the syndrome include: tendency to stick the tongue out crossed eyes strabismus skin, hair and eyes that are paler than other family members a wide mouth with widely spaced teeth a side-to-side curvature of the spine scoliosis walking with arms in the air Some young babies with Angelman syndrome may have difficulties feeding because they're unable to co-ordinate sucking and swallowing.
Causes of Angelman syndrome In most cases of Angelman syndrome, the child's parents do not have the condition and the genetic difference responsible for the syndrome happens by chance around the time of conception.
Diagnosing Angelman syndrome Angelman syndrome may be suspected if a child's development is delayed and they have the syndrome's distinctive characteristics.
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