Peutz-Jeghers syndrome is autosomal dominant, meaning that the mutation that causes it is not on one of the sex-linked chromosomes (X and Y) and that one copy of the defective gene, received from either parent, is enough to cause the disorder. The genetic defect can also arise in someone...
is not always the only determining factor when it comes to inherited diseases. For example, in the case of some inherited disorders of the autosomal dominant type, not everyone who inherits a defective gene will develop the disease. There are also examples of inherited diseases where the defectiv...
What is autosomal gene expression? What is an example of an autosomal recessive trait? Can a trait be sex-linked and autosomal? What is heterozygous in autosomal dominant traits? What is autosomal chromosome abnormality? What does autosomal dominant genetic disorder mean?
Genetically, Marshall Syndrome is an autosomal dominant disorder, meaning that it is inherited on a non-sex chromosome and that only one allele coding for the disorder is necessary for expression. The level to which Marshall Syndrome is expressed, however, varies significantly, and not all of tho...
Krabbe disease is a genetic disorder inherited by the expression of an autosomal recessive gene pattern responsible for producing a dominant trait. Specifically, the dominant trait involved with this disease is the formation of globoid cells, which are defined as cells with multiple nucleuses. This...
Mutation of the DMPK genecauses myotonic dystrophy type 1 (DM1). Mutation of CNBP gene causes type 2 (DM2). DM is typically inherited from a person's parents, following an autosomal dominant inheritance pattern, and it generally worsens with each generation. ...
Insomnia has significant heritability, and findings of GWASs have suggested common genetic predispositions with psychiatric disorders and sleep reactivity. Familial fatal insomnia is an autosomal-dominant genetic disorder caused by a mutation in the prion protein ( PRNP ) gene. Although advances in ...
What is true about mutations? What is a mutation? How are mutations caused? If the mutation that causes a disease is dominant, how will it be inherited? What is the EFEMP2 genetic mutation? Name different types of mutations and what causes them. Identify a human disorder that is cau...
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a genetic disorder that affects the small arteries in the brain, leading to stroke-like episodes, cognitive decline, and other symptoms. It can be life-threatening in some cases, but symptoms, severi...
Retinitis Pigmentosa is a group of degenerative and inherited eye disorders that cause visual impairments. Retinitis pigmentosa can lead to sight loss and blindness.