Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Book

Genetics, Autosomal Recessive

Aaishwariya Gulani  1 , Tracey Weiler  2
In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan.
.
Affiliations
Free Books & Documents
Book

Genetics, Autosomal Recessive

Aaishwariya Gulani et al.
Free Books & Documents

Excerpt

Inheritance patterns illustrate disease transmission amongst generations of a family. An autosomal pattern of inheritance occurs in families affected with a genetic disease whose gene is not on a sex chromosome. Patients affected with autosomal recessive (AR) diseases have a disease allele on each chromosome. The pattern of individuals affected with an AR disease can be traced through a family to determine which individuals are carriers and which individuals are likely to become impacted.

PubMed Disclaimer

Conflict of interest statement

Disclosure: Aaishwariya Gulani declares no relevant financial relationships with ineligible companies.

Disclosure: Tracey Weiler declares no relevant financial relationships with ineligible companies.

References

    1. van Dijk PJ, Ellis TH. The Full Breadth of Mendel's Genetics. Genetics. 2016 Dec;204(4):1327-1336. - PMC - PubMed
    1. Darr A, Small N, Ahmad WI, Atkin K, Corry P, Modell B. Addressing key issues in the consanguinity-related risk of autosomal recessive disorders in consanguineous communities: lessons from a qualitative study of British Pakistanis. J Community Genet. 2016 Jan;7(1):65-79. - PMC - PubMed
    1. Hoppe B, Danpure CJ, Rumsby G, Fryer P, Jennings PR, Blau N, Schubiger G, Neuhaus T, Leumann E. A vertical (pseudodominant) pattern of inheritance in the autosomal recessive disease primary hyperoxaluria type 1: lack of relationship between genotype, enzymic phenotype, and disease severity. Am J Kidney Dis. 1997 Jan;29(1):36-44. - PubMed
    1. Alnaqeb D, Hamamy H, Youssef AM, Al-Rubeaan K. ASSESSMENT OF KNOWLEDGE, ATTITUDE AND PRACTICE TOWARDS CONSANGUINEOUS MARRIAGES AMONG A COHORT OF MULTIETHNIC HEALTH CARE PROVIDERS IN SAUDI ARABIA. J Biosoc Sci. 2018 Jan;50(1):1-18. - PubMed
    1. Hussein N, Weng SF, Kai J, Kleijnen J, Qureshi N. Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease. Cochrane Database Syst Rev. 2018 Mar 14;3(3):CD010849. - PMC - PubMed

Publication types

LinkOut - more resources