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Shared genes Each person has approximately 23,000 genes.

. There are two copies of each gene one copy inherited from each parent. The sperm and the egg each contain one copy of every gene needed to make up an individual. When the sperm fertilises the egg, the two sets of genes combine to form pairs of genes that make up the childs DNA and allow new life to begin. Every human being has at least a number of faulty genes, but often these dont cause problems because only one of the genes in the pair is affected. In many cases, to develop a genetic disorder both of the genes in the pair must be altered. Ordinarily, two unrelated parents will have enough variation in their genes to ensure that their child has at least one normal copy of each gene. However, people with a common ancestor may each carry a copy of the same altered gene. This can make genetic disorders more likely to occur. Autosomal recessive genetic disorders If two parents have a copy of the same altered gene, they may both pass their copy of this altered gene on to a child, so the child receives both altered copies. As the child then does not have a normal, functioning copy of the gene, the child will develop the disorder. This is called autosomal recessive inheritance. The parents are often referred to as being carriers of the genetic condition and are unaffected themselves. Autosomal recessive genetic disorders are more likely to occur if two parents are related because they are more likely to have one copy of the same altered gene. However, it is still a relatively rare occurrence. Examples of autosomal recessive genetic disorders include cystic fibrosis and phenylketonuria (PKU). When both parents are carriers of the same altered gene, they have a one in four (25%) chance that each pregnancy will be affected. Other children of the same parents may also be affected or may be carriers, having only one copy of the altered gene. A child with only one copy of the altered gene will not be affected, as they also have a normal copy of that gene the same as their healthy parents. Autosomal dominant and X-linked disorders Related parents have the same chance of having a child with an X-linked or autosomal dominantly inherited condition as unrelated parents, unless there is known to be a condition inherited in this way in the family. Advice from a clinical genetics service should be sought if a related couple have a family history of a genetic condition. Incidence of birth defects A child of unrelated parents has a risk of around two to three per cent of being born with a serious birth defect or genetic disorder. This risk is approximately doubled (46%) for children of first cousins without a family history of genetic disorders. The risk of birth defects or death for children of first degree relatives for example, parent and child or brother and sister rises to about 30 per cent.

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