Research and Reports on Genetics

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Short Communication - Research and Reports on Genetics (2024) Volume 6, Issue 1

Understanding Autosomal Recessive Inheritance: Unraveling the Genetic Tapestry

Loura Mauring*

Department of Genetics, Tartu University Hospital, Estonia.

*Corresponding Author:
Loura Mauring
Department of Genetics,
Tartu University Hospital
Estonia
E-mail: laura.mauringkl@iinikum.ee

Received:28-Dec-2024,Manuscript No. AARRGS-24-125372; Editor assigned:01-Jan-2024,PreQC No. AARRGS-24-1253672(PQ); Reviewed:15-Jan-2024,QC No. AARRGS-24-1253672; Revised:20-Jan-2024, Manuscript No. AARRGS-24-125372 (R); Published:26-Jan-2024,DOI:10.35841/aarrgs-6.1.184

Citation: Mauring L. Understanding autosomal recessive inheritance: Unraveling the genetic tapestry.J Res Rep Genet.2024;6(1):184

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Introduction

The intricate dance of genetics shapes the very core of our existence, dictating the traits we inherit and the conditions we may be predisposed to. Autosomal recessive inheritance is one such genetic phenomenon that plays a pivotal role in determining the characteristics passed down from one generation to the next. In this article, we delve into the fascinating world of autosomal recessive inheritance, exploring its mechanisms, implications, and the significance it holds in the tapestry of human genetics. Autosomal recessive inheritance is a pattern of inheritance for genetic traits located on autosomes, which are non-sex chromosomes. Unlike sex-linked traits that are carried on the X or Y chromosomes, autosomal traits are found on the 22 pairs of autosomes that humans inherit from both parents. In the context of autosomal recessive traits, the presence of two copies of a specific gene is required for the expression of the associated trait or condition.[1,2].

Understanding the mechanism of autosomal recessive inheritance involves delving into the concept of alleles. Genes, the basic units of heredity, can exist in different forms called alleles. Each individual inherits one allele from each parent, resulting in a pair of alleles for a given gene.In autosomal recessive inheritance, a specific trait or condition is expressed only when an individual inherits two copies of the recessive allele. This means that if an individual inherits one dominant allele and one recessive allele for a particular gene, the dominant allele will mask the effects of the recessive allele, and the individual will not exhibit the associated trait.[3,4].

Autosomal recessive inheritance is associated with a myriad of genetic disorders and conditions. Individuals who carry one copy of a recessive allele but do not express the associated trait are known as carriers. Carriers are often asymptomatic but can pass the recessive allele to their offspring, potentially leading to the expression of the trait in future generations if both parents are carriers.One of the classic examples of autosomal recessive disorders is cystic fibrosis.[5,6].

 

This life-threatening condition results from mutations in the CFTR gene, and individuals with cystic fibrosis inherit two copies of the mutated gene – one from each parent. The manifestation of cystic fibrosis involves abnormal functioning of the respiratory, digestive, and reproductive systems, leading to various complications and a reduced lifespan.Another well-known autosomal recessive disorder is sickle cell anemia, caused by mutations in the HBB gene. Individuals with sickle cell anemia inherit two mutated copies of the gene, resulting in the production of abnormal hemoglobin and the characteristic sickle-shaped red blood cells. This condition can lead to a range of health issues, including chronic pain, organ damage, and an increased risk of infections.[7,8].

 

 

The prevalence of autosomal recessive disorders varies across populations, and carrier frequencies can be influenced by factors such as consanguinity and geographic location. Genetic counseling plays a crucial role in helping individuals understand their risk of carrying or expressing autosomal recessive traits, especially in cases where there is a family history of genetic disorders.Carrier screening is a common practice in genetic counseling, allowing individuals to assess their risk of being carriers for specific autosomal recessive disorders. This information can be invaluable when making family planning decisions, as it provides insight into the likelihood of passing on a genetic condition to offspring.[9,10].

 

Conclusion

 

Autosomal recessive inheritance is a fundamental aspect of human genetics, shaping the inheritance patterns of numerous traits and conditions. The intricate interplay of alleles and the requirement for two copies of a recessive allele for expression add layers of complexity to the genetic landscape. As our understanding of genetics continues to deepen, so does our ability to identify, manage, and prevent autosomal recessive disorders. Through genetic counseling, carrier screening, and ongoing research, we strive to unravel the mysteries of autosomal recessive inheritance, contributing to the well-being of future generations.

 

References

  1. McKusick VA. Mendelian inheritance in man: catalogs of autosomal dominant, autosomal recessive, and X-linked phenotypes. Elsevier. 2014;2: 18-20.

    2. Indexed at, Google Scholar

  2. Bonifati V. Autosomal recessive parkinsonism. Parkinsonism & related disorders. 2012 ;18:S4-6.

    3. Indexed at, Google Scholar, Cross Ref

  3. Rossetti S. Genotype–phenotype correlations in autosomal dominant and autosomal recessive polycystic kidney disease.2007;18(5):1374-80.

    4. Indexed at, Google Scholar, Cross Ref

  4. Fischer J. Autosomal recessive congenital ichthyosis. 2009;129(6):1319-21.

    5. Google Scholar

  5. Wingo TS. Autosomal recessive causes likely in early-onset Alzheimer disease. AMA Arch Neurol. 2012;69(1):59-64.

    6. Indexed at, Google Scholar, Cross Ref

  6. Teebi AS. Autosomal recessive disorders among Arabs: an overview from Kuwait. J Med Genet. 1994;31(3):224.

    7. Indexed at, Google Scholar, Cross Ref

  7. Zerres K. Autosomal recessive polycystic kidney disease. J Mol Med. 1998;76:303-9.

    8. Google Scholar

  8. Palau F. Autosomal recessive cerebellar ataxias. Orphanet J Rare Dis. 2006;1:1-9.

    9. Google Scholar

  9. Vallance H, Ford J. Carrier testing for autosomal-recessive disorders. Crit Rev Clin Lab Sci. 2003;40(4):473-97.

    10. Indexed at, Google Scholar, Cross Ref

  10. Beighton P. Sclerosteosis—an autosomal recessive disorder. Clinical Gen. 1977;11(1):1-7.

    11. Indexed at, Google Scholar, Cross Ref

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