WordNet

the quality of being diverse and not comparable in kind (同)heterogeneousness
pertaining to or referring to origin; "genetic history reconstructs the origins of a literary work"
of or relating to the science of genetics; "genetic research" (同)genetical
the branch of biology that studies heredity and variation in organisms (同)genetic science
agile Old World viverrine having a spotted coat and long ringed tail (同)Genetta genetta

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異種,異種混成
遺伝学

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/12/09 07:24:30」(JST)

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Genetic heterogeneity is a phenomenon in which a single phenotype or genetic disorder may be caused by any one of a multiple number of alleles or non-allele (locus) mutations.^[1] This is in contrast to pleiotropy, where a single gene may cause multiple phenotypic expressions or disorders. Genetic heterogeneity describes genetic variation from the normal population. Clinically, genetic heterogeneity refers to diseases that result from multiple gene abnormalities.^[2] Multiple gene abnormalities are seen in disorders such as autism, cystic fibrosis, and retinitis pigmentosa.^[3]

Role in medical disorders

Genetic Heterogeneity is responsible for the presence of many medical disorders in humans.^[4] Heritable diseases are a result of a genotype that varies from the population standard.^[4] In relation to diseases, one gene mutation (varying from population) can cause a phenotypic disorder. The mutation can be expressed differently in different individuals. Additionally, mutations in multiple genes can result in phenotype of one disorder.

Occurrence

Genetic heterogeneity is present in many disorders. Multiple gene abnormalities are seen in disorders such as autism, cystic fibrosis, and retinitis pigmentosa. An inherited predisposition for the development of breast cancer has been investigated. Multiple alleles are involved in this disease.^[5]

Mental Illnesses

Autism

Cystic fibrosis

Retinitis Pigmentosa

Mechanisms of mutations

Allelic heterogeneity means that different mutations within a single gene locus (forming multiple alleles of that gene) cause the same phenotypic expression. For example, there are over 1000 known mutant alleles of the CFTR gene that cause cystic fibrosis.

Locus heterogeneity means that variations in completely unrelated gene loci cause a single disorder. For example, retinitis pigmentosa has autosomal dominant, autosomal recessive, and X-linked origins. However, only one mutant locus is needed for the phenotype to manifest.

References

^ Turnpenny and Ellard, Emery's Elements of Medical Genetics, 13th Edition. Elsevier Limited, 2007. ISBN 978-0-7020-2917-2
^ "Genetic Heterogeneity". NCBI. Retrieved November 19, 2015.
^ NCBI http://www.ncbi.nlm.nih.gov/mesh?term=Genetic+Heterogeneity&report=Full. Retrieved November 24, 2015. Missing or empty |title= (help)
^ ^a ^b McClellan, J; King, M (2010). "Genetic heterogeneity in human disease". Cell 141 (2). doi:10.1016/j.cell.2010.03.032. Retrieved November 1, 2015.
^ http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2906584/.

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UpToDate Contents

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1. メンデル遺伝の概要 overview of mendelian inheritance
2. Incidental and secondary findings from genetic testing
3. 遺伝関連研究：原理および応用 genetic association studies principles and applications
4. オーダーメイド医療 personalized medicine
5. アミロイド疾患の遺伝的要因 genetic factors in the amyloid diseases

English Journal

Shortened leukocyte telomere length in type 2 diabetes mellitus: genetic polymorphisms in mitochondrial uncoupling proteins and telomeric pathways.

Zhou Y1, Ning Z2, Lee Y3, Hambly BD4, McLachlan CS5.
Clinical and translational medicine.Clin Transl Med.2016 Dec;5(1):8. doi: 10.1186/s40169-016-0089-2. Epub 2016 Mar 7.
Current debate in type 2 diabetes (T2DM) has focused on shortened leukocyte telomere length (LTL) as the result of a number of possible causes, including polymorphisms in mitochondrial uncoupling proteins (UCPs) leading to oxidative stress, telomere regulatory pathway gene polymorphisms, or as a dir
PMID 26951191

A holistic view of cancer bioenergetics: mitochondrial function and respiration play fundamental roles in the development and progression of diverse tumors.

Alam MM1, Lal S2, FitzGerald KE3, Zhang L4.
Clinical and translational medicine.Clin Transl Med.2016 Dec;5(1):3. doi: 10.1186/s40169-016-0082-9. Epub 2016 Jan 26.
Since Otto Warburg made the first observation that tumor cells exhibit altered metabolism and bioenergetics in the 1920s, many scientists have tried to further the understanding of tumor bioenergetics. Particularly, in the past decade, the application of the state-of the-art metabolomics and genomic
PMID 26812134

Identification of novel mutations in hemochromatosis genes by targeted next generation sequencing in Italian patients with unexplained iron overload.

Badar S1, Busti F1, Ferrarini A2, Xumerle L2, Bozzini P1, Capelli P3, Pozzi-Mucelli R4, Campostrini N1, De Matteis G5, Marin Vargas S2, Giorgetti A2, Delledonne M2, Olivieri O1, Girelli D1,6.
American journal of hematology.Am J Hematol.2016 Jun;91(4):420-5. doi: 10.1002/ajh.24304.
Hereditary hemochromatosis, one of the commonest genetic disorder in Caucasians, is mainly associated to homozygosity for the C282Y mutation in the HFE gene, which is highly prevalent (allele frequency up to near 10% in Northern Europe) and easily detectable through a widely available "first level"
PMID 26799139

Japanese Journal

びまん性大細胞型B細胞リンパ腫非特異型における遺伝子異常の多様性 (第78回日本血液学会学術集会) -- (JSH-ASH Joint Symposium : Molecular heterogeneity and target therapies of malignant lymphoma in new WHO classification era)