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Autosomal recessive disorders

Related Terms

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Background

  • Chromosomes are the genetic material found in all cells. They consist of proteins and deoxyribonucleic acid (DNA). Each cell has 23 pairs of chromosomes, including one pair of sex chromosomes and 22 pairs of non-sex chromosomes. There are two sex chromosomes, called the X chromosome and the Y chromosome. Females have two X chromosomes, while males have one X chromosome and one Y chromosome. Autosomes are the non-sex chromosomes that are numbered chromosome 1 through 22. Each autosomal gene has two copies and one copy (or allele) is inherited from each parent. Variations of the genes are also known as alleles.
  • A person inherits genes from his or her parents. One gene is inherited from the mother, and the other gene is inherited from the father. Each parent can only pass one of their genes on to the child. Which gene gets passed down is determined purely by chance. When both alleles of a gene are the same, a person is said to be homozygous for that gene. If different alleles of the gene are inherited from each parent, the person is said to be heterozygous for that gene.
  • Autosomal recessive disorders are inherited disorders caused by a mutation in a gene. In order to have an autosomal recessive disorder, both copies of the gene (one inherited from each parent) need to contain the mutation. In other words, to be affected by an autosomal recessive disorder, the person needs to be homozygous for that gene. This is different from autosomal dominant disorders, for which a person only needs to inherit one copy of the mutant gene to be affected by the disorder.
  • When only one mutant gene is inherited in an autosomal recessive disorder, the person does not have the disease and is known as a genetic carrier of the disease. Carriers are able to pass their mutant gene to their children. If both parents are genetic carriers of an autosomal recessive disorder, there is a one in four chance that the child will have the disease. There is a 25% chance the child will have two normal genes and a 50% chance the child will be a carrier and not have the disease. If only one parent has a faulty gene, there is no chance the child will develop the disease. In this case, there is a 25% chance of the child being a carrier. If both parents are affected by an autosomal recessive disorder, then all of their children will most likely have that condition as well.
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Methods

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Research

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Implications

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Limitations

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Safety

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Future Research

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Author Information

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References

Natural Standard developed the above evidence-based information based on a thorough systematic review of the available scientific articles. For comprehensive information about alternative and complementary therapies on the professional level, go to www.naturalstandard.com. Selected references are listed below.

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The information in this monograph is intended for informational purposes only, and is meant to help users better understand health concerns. Information is based on review of scientific research data, historical practice patterns, and clinical experience. This information should not be interpreted as specific medical advice. Users should consult with a qualified healthcare provider for specific questions regarding therapies, diagnosis and/or health conditions, prior to making therapeutic decisions.