加拿大护理学论文代写:威尔逊病

Keywords:加拿大护理学论文代写:威尔逊病

威尔逊病是一种常染色体隐性遗传病，这意味着它在男性和女性中同样存在。为了继承威尔逊病，父母双方都必须携带一种基因突变(基因的异常变化)，这种突变是父母双方传给患病儿童的。在所有已知的种族和民族中，至少有三万分之一的人患有这种疾病。在23条不同的人类染色体中，导致威尔逊病的基因位于13号染色体上。该基因被称为ATP7B，它包含了制造铜转运蛋白所必需的遗传信息，而铜转运蛋白在将铜融入铜浆蛋白并将多余的铜排出肝脏方面发挥着关键作用。基因突变导致异常的铜转运体不能有效或根本不能转移铜。到目前为止，已经发现了超过300个ATB7B基因。多余的铜在肝脏和其他器官中积累。大多数病人没有威尔逊病的家族史。只有一个异常基因的人被称为携带者。携带者(杂合子)可能有轻微的铜代谢异常，但在医学上无关紧要。携带者不会生病，也不应该接受治疗。威尔逊病的患者(纯合子)确实会生病，必须终生接受治疗，否则最终会发展成严重的致命疾病。在普通人群中，每100个人中就有一个人携带着威尔逊病基因的异常拷贝。携带者有一个正常基因和一个异常基因。所有(100%)患有威尔逊病的儿童都至少接受了一个威尔逊病基因的异常拷贝。携带者的子女中有一半(50%)至少接受了一个异常的威尔逊病基因拷贝。基因咨询师可以提供更详细的特定家庭关系谱系。
加拿大护理学论文代写:威尔逊病
Wilson disease is an autosomal recessive disease, which means it occurs equally in men and women. In order to inherit Wilson disease, both parents must carry one genetic mutation (abnormal alteration in the gene) that each parent passes to the affected child. At least one in 30,000 people of all known races and nationalities has the disease. Of the 23 different human chromosomes, the gene responsible for Wilson disease is located on chromosome 13. The gene is called ATP7B and it contains the genetic information necessary to make a copper transport protein that plays a key role in incorporating copper into ceruloplasmin and moving excess copper out of the liver. Mutations in the gene lead to an abnormal copper transporter that cannot move copper effectively or at all. More than 300 genes of the ATB7B have been identified thus far.This excess copper accumulates in the liver and other organs. Most patients have no family history of Wilson disease. People with only one abnormal gene are called carriers. Carriers (heterozygotes) may have mild, but medically insignificant, abnormalities of copper metabolism. Carriers do not become ill and should not be treated. Wilson disease patients (homozygotes) do become ill and must receive treatment lifelong or eventually they will develop severe lethal disease.One in 100 individuals in the general population carries one abnormal copy of the Wilson disease gene. Carriers have one normal and one abnormal gene. All (100%) children of those afflicted with Wilson disease receive at least one abnormal copy of the Wilson disease gene. One half (50%) of a carrier’s children receive at least one abnormal copy of the Wilson disease gene. A genetic counselor can provide a more detailed pedigree of specific family relationships.