0
What else can I help you with?
Describe 2 genetic disorders and discuss how they are inherited?
Marfan's syndrome is an autosomal dominant disorder of connective tissues. What is inherited is a defect in the chromosome 15q21, that codes the FBN1 gene. This gene is necessary for proper synthesis if a type of connective tissue called fibrillin. Patients have skeletal abnormalities, eye changes, cardiovascular problems, and a marked tendency to bruise. Tay-Sachs disease is a lysosomal storage disorder, characterised by ganglioside accumulation. This is due to an enzyme deficiency in the lysosome that cannot digest the gangliosides and hence leads to progressive accumulation.
What is automasal trait?
With an autosomal recessive inheritance pattern, a person needs to have 2 copies of a gene change to have the condition. In most cases, people with an autosomal recessive condition get one gene change from the mother and one gene change from the father.The parents of a person with an autosomal recessive condition may not have the condition themselves, since each parent only needs to have one copy of the gene change. People with one copy of the gene change are called carriers, who do not have the condition, but are more likely to have children with the condition. Other family members (uncles, aunts, brothers, cousins, etc) may also be carriers.
What is an autosomal dominant disorder?
Chromosomes can be divided into autosomes and sex chromosomes. The sex chromosomes (eg X and Y in humans) carry genes concerned with sex determination. The remaining chromosomes are called autosomes. They carry genes which are the same in males and females. Aberrations are changes or mutations in the chromosomes. So autosomal aberrations are mutations in the non-sex chromosomes.
If a genetic disease requires 2 damaged copies of the gene in order to be expressed and these genes are not located on the sex chromosomes it is called?
If a genetic disease requires two damaged copies of the gene for expression and the genes are not located on the sex chromosomes, it is called an autosomal recessive disorder. In this type of inheritance, an individual must inherit one mutated copy from each parent to express the disease. Examples of autosomal recessive disorders include cystic fibrosis and sickle cell anemia.
Is alcoholism a genetic disorder?
Alcoholism is a big problem among many Americans. Although it has not been proven that Alcoholism is gene related, there is a bit of evidence. Now studies show the the F1 generation of the RHD2 gene have some alcoholism related signs but no specific evidence suggests any real link. On average 1 out of 13 Americans is affected by Alcoholism so based on the evidence we have the so called "Alcoholism gene" shows a recessivetendency. Based on majority grouping and known scientific evidence, this gene is in fact recessive.
Why is Huntington's disorder called an inherited condition?
Because the recessive genes that cause the condition are inherited from the parents of the sufferer.
How is usher syndrome inherited?
Usher syndrome is inherited as an autosomal recessive trait. The term autosomal means that the mutated gene is not located on either of the chromosomes that determine a person's sex; in other words, both males and females can have the disorder and can pass along the disorder to a child. The word recessive means that to have Usher syndrome, an individual must receive a mutated form of the Usher syndrome gene from each parent. If a child has a mutation in one Usher syndrome gene but the other gene is normal, he or she is predicted to have normal vision and hearing. Individuals with a mutation in a gene that can cause an autosomal recessive disorder are called carriers, because they "carry" the gene with a mutation but show no symptoms of the disorder. If both parents are carriers of a mutated gene for Usher syndrome, they will have a one-in-four chance of having a child with Usher syndrome with each birth.
What kind of inherited condition is Metachromatic leukodystrophy?
Metachromatic leukodystrophy (MLD), also called sulfatide lipidosis and arylsulfatase A (ARSA) deficiency, is inherited as an autosomal recessive trait, due to mutations in the arylsulfatase A (ARSA) gene
Describe 2 genetic disorders and discuss how they are inherited?
Marfan's syndrome is an autosomal dominant disorder of connective tissues. What is inherited is a defect in the chromosome 15q21, that codes the FBN1 gene. This gene is necessary for proper synthesis if a type of connective tissue called fibrillin. Patients have skeletal abnormalities, eye changes, cardiovascular problems, and a marked tendency to bruise. Tay-Sachs disease is a lysosomal storage disorder, characterised by ganglioside accumulation. This is due to an enzyme deficiency in the lysosome that cannot digest the gangliosides and hence leads to progressive accumulation.
What type of inherited condition is Refsum disease?
Refsum disease , also called hereditary motor and sensory neuropathy (HMSN) IV, shows autosomal recessive inheritance, and is caused by mutations in the PAHX/PHYH or PEX7 genes
What is automasal trait?
With an autosomal recessive inheritance pattern, a person needs to have 2 copies of a gene change to have the condition. In most cases, people with an autosomal recessive condition get one gene change from the mother and one gene change from the father.The parents of a person with an autosomal recessive condition may not have the condition themselves, since each parent only needs to have one copy of the gene change. People with one copy of the gene change are called carriers, who do not have the condition, but are more likely to have children with the condition. Other family members (uncles, aunts, brothers, cousins, etc) may also be carriers.
What is an autosomal dominant disorder?
Chromosomes can be divided into autosomes and sex chromosomes. The sex chromosomes (eg X and Y in humans) carry genes concerned with sex determination. The remaining chromosomes are called autosomes. They carry genes which are the same in males and females. Aberrations are changes or mutations in the chromosomes. So autosomal aberrations are mutations in the non-sex chromosomes.
How is hemochromatosis inherited?
Hereditary hemochromatosis is an autosomal recessive disorder, which means an individual has the possibility of developing iron overload only if he/she inherits abnormal genes from both parents. HOPE THAT HELPS :) I know because I'm doing a science project on it.
How does a person receive the gauchers disease?
Gaucher's disease is an inherited genetic disorder caused by mutations in the GBA gene. A person inherits this mutation from both parents in an autosomal recessive manner. It results in the build-up of a fatty substance called glucocerebroside in cells, affecting the organs and tissues.
If a genetic disease requires 2 damaged copies of the gene in order to be expressed and these genes are not located on the sex chromosomes it is called?
If a genetic disease requires two damaged copies of the gene for expression and the genes are not located on the sex chromosomes, it is called an autosomal recessive disorder. In this type of inheritance, an individual must inherit one mutated copy from each parent to express the disease. Examples of autosomal recessive disorders include cystic fibrosis and sickle cell anemia.
Is alcoholism a genetic disorder?
Alcoholism is a big problem among many Americans. Although it has not been proven that Alcoholism is gene related, there is a bit of evidence. Now studies show the the F1 generation of the RHD2 gene have some alcoholism related signs but no specific evidence suggests any real link. On average 1 out of 13 Americans is affected by Alcoholism so based on the evidence we have the so called "Alcoholism gene" shows a recessivetendency. Based on majority grouping and known scientific evidence, this gene is in fact recessive.
What are autosomal recessive diseases?
both parents contribute genetic material to their offspring, each child carries two copies of almost every gene, one from each parent. For some diseases to occur, both copies must be flawed. Such diseases are called autosomal recessive diseases
