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What are the different ways a genetic condition can be inherited? From Genetics Home Reference. These conditions are usually inherited in one of several patterns, depending on the gene involved: Patterns of inheritance Inheritance pattern Description Examples Autosomal dominant One altered copy of the gene in each cell is sufficient for a person to be affected by an autosomal dominant disorder.
Huntington disease , Marfan syndrome Autosomal recessive In autosomal recessive inheritance , variants occur in both copies of the gene in each cell. Y chromosome infertility , some cases of Swyer syndrome Codominant In codominant inheritance , two different versions alleles of a gene are expressed, and each version makes a slightly different protein. ABO blood group, alpha-1 antitrypsin deficiency Mitochondrial Mitochondrial inheritance , also known as maternal inheritance, applies to genes in mitochondrial DNA.
Leber hereditary optic neuropathy LHON Many health conditions are caused by the combined effects of multiple genes described as polygenic or by interactions between genes and the environment. Topics in the Inheriting Genetic Conditions chapter What does it mean if a disorder seems to run in my family?
Why is it important to know my family health history? If a genetic disorder runs in my family, what are the chances that my children will have the condition? What are reduced penetrance and variable expressivity?
What do geneticists mean by anticipation? What are genomic imprinting and uniparental disomy? Are chromosomal disorders inherited? Why are some genetic conditions more common in particular ethnic groups? What is heritability? In conclusion, we have observed RME of the Tbx5 gene during mouse embryo development, which may provide a potentially reasonable explanation for the widespread phenotypic variability in HOS.
Based on this result and the review of the relevant literature described above, we suggest that the possibility of RME should be investigated in those situations where autosomal dominant disorders display intra- and interindividual variability.
This model will further provide novel insights into the variability of autosomal dominant traits, and a better understanding of the expressivity of disease conditions.
TH conceived the idea for this study. The project was designed and supervised by TH. The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
Amir, R. Aseem, O. Cubilin expression is monoallelic and epigenetically augmented via PPARs. BMC Genomics Barton, S. Role of paternal and maternal genomes in mouse development. Nature , — Basson, C. The clinical and genetic spectrum of the Holt-Oram syndrome heart-hand syndrome. Bix, M. Science , — Borel, C. Biased allelic expression in human primary fibroblast single cells. Brassington, A. Buck, L. A novel multigene family may encode odorant receptors: a molecular basis for odor recognition.
Cell 65, — Buiting, K. Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome Calado, D. Stochastic monoallelic expression of IL in T cells. Carr, M. Allele-specific histone modifications regulate expression of the Dlk1-Gtl2 imprinted domain.
Genomics 89, — Chen, G. Single-cell analyses of X Chromosome inactivation dynamics and pluripotency during differentiation. Genome Res. Chess, A. Allelic inactivation regulates olfactory receptor gene expression. Cell 78, — Clowney, E. High-throughput mapping of the promoters of the mouse olfactory receptor genes reveals a new type of mammalian promoter and provides insight into olfactory receptor gene regulation. Dayer, R. Tibial aplasia-hypoplasia and ectrodactyly in monozygotic twins with a discordant phenotype.
Deng, Q. Single-cell RNA-seq reveals dynamic, random monoallelic gene expression in mammalian cells. Eckersley-Maslin, M. Random monoallelic gene expression increases upon embryonic stem cell differentiation. Cell 28, — Elliott, A. Discrepancies in upper and lower limb patterning in split hand foot malformation.
Esumi, S. Monoallelic yet combinatorial expression of variable exons of the protocadherin-alpha gene cluster in single neurons. Ferguson-Smith, A. Parental-origin-specific epigenetic modification of the mouse H19 gene. Gendrel, A. Developmental dynamics and disease potential of random monoallelic gene expression. Gennari, L. Bone Miner. Gimelbrant, A. Widespread monoallelic expression on human autosomes. Monoallelic expression and asynchronous replication of p catenin in mouse and human cells.
Grasshoff, U. Hollander, G. Monoallelic expression of the interleukin-2 locus. Howeler, C. Anticipation in myotonic dystrophy: fact or fiction? Brain Pt 3 , — Google Scholar. Hu, J. Tissue-specific imprinting of the mouse insulin-like growth factor II receptor gene correlates with differential allele-specific DNA methylation.
Huang, T. Current advances in Holt-Oram syndrome. Causes of clinical diversity in human TBX5 mutations. Spring Harb. Jeffries, A. Stochastic choice of allelic expression in human neural stem cells. Stem Cells 30, — Koshiba-Takeuchi, K. Cooperative and antagonistic interactions between Sall4 and Tbx5 pattern the mouse limb and heart. Li, D. The roles of two novel FBN1 gene mutations in the genotype-phenotype correlations of Marfan syndrome and ectopia lentis patients with marfanoid habitus. Lyon, M.
Clinical genomics. Textbook of Family Medicine. Philadelphia, PA: Elsevier Saunders; chap Human genetics and patterns of inheritance. Philadelphia, PA: Elsevier; chap 1. Korf BR. Principles of genetics. Goldman-Cecil Medicine. Philadelphia, PA: Elsevier; chap Updated by: Anna C. Review provided by VeriMed Healthcare Network.
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