Wat is genetische heterogeniteit?

Wat is genetische heterogeniteit?

Genetische heterogeniteit is een tweede complicerende factor bij het opsporen van mutaties: verschillende genen kunnen afzonderlijk verantwoordelijk zijn voor hetzelfde ziektebeeld. Een actueel voorbeeld hiervan is erfelijke borst- en ovariumkanker, waarvoor twee risicogenen BRCA1 en BRCA2 zijn geïdentificeerd.

Wat is locus heterogeniteit?

Locus heterogeniteit: ziekte/fenotype wordt veroorzaakt door mutaties op verschillende loci (verschillende genen die dezelfde mutatie veroorzaken)

What is a gain of function mutation?

Gain-of-function mutation: A mutation that confers new or enhanced activity on a protein. Loss-of-function mutations, which are more common, result in reduced or abolished protein function. What causes tooth decay?

What is an allele?

Alleles are copies of genes that influence hereditary characteristics. Each person inherits at least two alleles for a particular gene—one allele from each parent. They are also called allelomorphs.

What is the difference between gain of function and loss of function?

Gain-of-function mutation: A mutation that confers new or enhanced activity on a protein. Loss-of-function mutations, which are more common, result in reduced or abolished protein function. Could I have CAD?

How do alleles interact with each other in inheritance?

The traits we end up inheriting from our parents depend on how the alleles interact with each other. The specific way that alleles are paired together are known as inheritance patterns, which make up all the variations in a person’s genetic traits.

What is the Duchenne muscular dystrophy gene?

The DMD gene is the second largest gene to date, which encodes the muscle protein, dystrophin. Boys with Duchenne muscular dystrophy do not make the dystrophin protein in their muscles. Duchenne muscular dystrophy affects approximately 1 in 3500 male births worldwide.

What is the life expectancy of someone with Duchenne muscular dystrophy?

Few individuals with DMD live beyond their 30s. Breathing complications and cardiomyopathy are common causes of death. How is Duchenne muscular dystrophy diagnosed? Duchenne muscular dystrophy is diagnosed in several ways.

When do children with Duchenne muscular dystrophy (DMD) usually use a wheelchair?

Most children with DMD use a wheelchair by their early teens. Heart and breathing problems also begin in the teen years and lead to serious, life threatening complications. DMD is caused by genetic changes ( DNA variants) in the DMD gene.

What are the chances of having a child with Duchenne muscular atrophy?

Each time a carrier woman has a son, there is a 50% chance (or 1 out of 2) that he will be affected with Duchenne. Each time a carrier woman has a daughter, there is a 50% chance (or 1 out of 2) that she will be a carrier or a manifesting carrier.