U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Molecular Genetic Variation

MedGen UID:
316446
•Concept ID:
C1704257
•
Finding
Synonyms: Anomaly; DNA Sequence Variation; Genetic Abnormality; Genetic Alteration; Genetic Anomaly; Molecular Abnormality; Molecular Anomaly; Molecular Genetic Abnormality; Molecular Genetic Anomaly

Definition

Any alteration in the inherited nucleic acid sequence of the genotype of an organism. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMolecular Genetic Variation

Professional guidelines

PubMed

Molecular genetic screening of full-term small for gestational age.
Zhang S, Zhou L, Zhang L, Wang Y, Wang H
BMC Pediatr 2023 May 5;23(1):217. doi: 10.1186/s12887-023-04030-0. PMID: 37147621Free PMC Article
Epistasis and Pleiotropy Affect the Modularity of the Genotype-Phenotype Map of Cross-Resistance in HIV-1.
Polster R, Petropoulos CJ, Bonhoeffer S, Guillaume F
Mol Biol Evol 2016 Dec;33(12):3213-3225. Epub 2016 Sep 27 doi: 10.1093/molbev/msw206. PMID: 27678053Free PMC Article
Evaluation of molecular genetic variation associated with deep venous thrombosis in lower limb fractures in traumatic patients.
Tabrizi A, Bazavar MR, Elmi A, Vahedi A, Dourandish N
Indian J Med Sci 2012 Sep-Oct;66(9-10):207-13. PMID: 23897567

Recent clinical studies

Etiology

Language processing skills linked to FMR1 variation: A study of gaze-language coordination during rapid automatized naming among women with the FMR1 premutation.
Nayar K, McKinney W, Hogan AL, Martin GE, La Valle C, Sharp K, Berry-Kravis E, Norton ES, Gordon PC, Losh M
PLoS One 2019;14(7):e0219924. Epub 2019 Jul 26 doi: 10.1371/journal.pone.0219924. PMID: 31348790Free PMC Article
Mitochondrial DNA diversity in Mennonite communities from the midwestern United States.
Melton PE, Mosher MJ, Rubicz R, Zlojutro M, Crawford MH
Hum Biol 2010 Jun;82(3):267-89. doi: 10.3378/027.082.0302. PMID: 20649384
Molecular genetic variation in the East Midlands, England: analysis of VNTR, STR and Alu insertion/deletion polymorphisms.
Mastana S, Lee D, Singh PP, Singh M
Ann Hum Biol 2003 Sep-Oct;30(5):538-50. doi: 10.1080/0301446031000119593. PMID: 12959895
Molecular genetic variation in Emmonsia crescens and Emmonsia parva, etiologic agents of adiaspiromycosis, and their phylogenetic relationship to Blastomyces dermatitidis (Ajellomyces dermatitidis) and other systemic fungal pathogens.
Peterson SW, Sigler L
J Clin Microbiol 1998 Oct;36(10):2918-25. doi: 10.1128/JCM.36.10.2918-2925.1998. PMID: 9738044Free PMC Article
Incorporating molecular genetic variation and environmental exposures into epidemiologic studies of congenital anomalies.
Shaw GM, Lammer EJ
Reprod Toxicol 1997 Mar-Jun;11(2-3):275-80. doi: 10.1016/s0890-6238(96)00145-1. PMID: 9100302

Diagnosis

The evolving role of next generation sequencing in myelodysplastic syndromes.
Spaulding TP, Stockton SS, Savona MR
Br J Haematol 2020 Jan;188(2):224-239. Epub 2019 Oct 1 doi: 10.1111/bjh.16212. PMID: 31571207
Serotonin transporter gene variation impacts innate fear processing: Acoustic startle response and emotional startle.
Brocke B, Armbruster D, Muller J, Hensch T, Jacob CP, Lesch KP, Kirschbaum C, Strobel A
Mol Psychiatry 2006 Dec;11(12):1106-12. Epub 2006 Oct 10 doi: 10.1038/sj.mp.4001908. PMID: 17033630
Gene markers and antihypertensive therapy.
Turner ST, Schwartz GL
Curr Hypertens Rep 2005 Feb;7(1):21-30. doi: 10.1007/s11906-005-0051-y. PMID: 15683583

Therapy

Evaluation of molecular genetic variation associated with deep venous thrombosis in lower limb fractures in traumatic patients.
Tabrizi A, Bazavar MR, Elmi A, Vahedi A, Dourandish N
Indian J Med Sci 2012 Sep-Oct;66(9-10):207-13. PMID: 23897567
Serotonin transporter gene variation impacts innate fear processing: Acoustic startle response and emotional startle.
Brocke B, Armbruster D, Muller J, Hensch T, Jacob CP, Lesch KP, Kirschbaum C, Strobel A
Mol Psychiatry 2006 Dec;11(12):1106-12. Epub 2006 Oct 10 doi: 10.1038/sj.mp.4001908. PMID: 17033630
Association between serum insulin growth factor-I (IGF-I) and a simple sequence repeat in IGF-I gene: implications for genetic studies of bone mineral density.
Rosen CJ, Kurland ES, Vereault D, Adler RA, Rackoff PJ, Craig WY, Witte S, Rogers J, Bilezikian JP
J Clin Endocrinol Metab 1998 Jul;83(7):2286-90. doi: 10.1210/jcem.83.7.4964. PMID: 9661596
Incorporating molecular genetic variation and environmental exposures into epidemiologic studies of congenital anomalies.
Shaw GM, Lammer EJ
Reprod Toxicol 1997 Mar-Jun;11(2-3):275-80. doi: 10.1016/s0890-6238(96)00145-1. PMID: 9100302

Prognosis

Evolutionary Insights from a Large-Scale Survey of Population-Genomic Variation.
Ye Z, Wei W, Pfrender ME, Lynch M
Mol Biol Evol 2023 Nov 3;40(11) doi: 10.1093/molbev/msad233. PMID: 37863047Free PMC Article
The evolving role of next generation sequencing in myelodysplastic syndromes.
Spaulding TP, Stockton SS, Savona MR
Br J Haematol 2020 Jan;188(2):224-239. Epub 2019 Oct 1 doi: 10.1111/bjh.16212. PMID: 31571207
Evaluation of molecular genetic variation associated with deep venous thrombosis in lower limb fractures in traumatic patients.
Tabrizi A, Bazavar MR, Elmi A, Vahedi A, Dourandish N
Indian J Med Sci 2012 Sep-Oct;66(9-10):207-13. PMID: 23897567
Modern computational approaches for analysing molecular genetic variation data.
Marjoram P, Tavaré S
Nat Rev Genet 2006 Oct;7(10):759-70. doi: 10.1038/nrg1961. PMID: 16983372
Gene markers and antihypertensive therapy.
Turner ST, Schwartz GL
Curr Hypertens Rep 2005 Feb;7(1):21-30. doi: 10.1007/s11906-005-0051-y. PMID: 15683583

Clinical prediction guides

Evolutionary Insights from a Large-Scale Survey of Population-Genomic Variation.
Ye Z, Wei W, Pfrender ME, Lynch M
Mol Biol Evol 2023 Nov 3;40(11) doi: 10.1093/molbev/msad233. PMID: 37863047Free PMC Article
Interpreting humanity's genes.
Shaw AC, Hennekam RC
Eur J Med Genet 2009 Nov-Dec;52(6):379-80. Epub 2009 Aug 12 doi: 10.1016/j.ejmg.2009.08.002. PMID: 19679203
Modern computational approaches for analysing molecular genetic variation data.
Marjoram P, Tavaré S
Nat Rev Genet 2006 Oct;7(10):759-70. doi: 10.1038/nrg1961. PMID: 16983372
Gene markers and antihypertensive therapy.
Turner ST, Schwartz GL
Curr Hypertens Rep 2005 Feb;7(1):21-30. doi: 10.1007/s11906-005-0051-y. PMID: 15683583
Molecular genetic variation in the East Midlands, England: analysis of VNTR, STR and Alu insertion/deletion polymorphisms.
Mastana S, Lee D, Singh PP, Singh M
Ann Hum Biol 2003 Sep-Oct;30(5):538-50. doi: 10.1080/0301446031000119593. PMID: 12959895

Supplemental Content

Table of contents

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Related information

    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...