Talk:Germline mosaicism
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editThis should be deleted; the information is already in the mosaicism page. 74.131.91.150 (talk) 11:51, 13 December 2010 (UTC)
I'd like to add some information on the cause of germ line mosaicism, and the difficulty in detecting these mutations. Something along the lines of this: -Germline mosaicism is when there is a mixture of cells with different genetics contained in the gametes. -Pure Germline mosaicism means that the mixture of cells with different genetics is only found in the gametes -Germline mosacism is caused by a mutation in a cell after conception. Whether the mutation leads to Somatic or Germline Mosaicism depends on the stage of development the embryo is in -Problems – it is difficult to detect germline mosaicism because mutations would not likely be present in the somatic cells that are commonly tested. (depending on whether or not you are dealing with pure germline mosaicism.) Because of this, an individual’s genotype may test negative for a certain mutation, but it is still possible that they carry that mutation in their gamete cells. [1] Genetic diseases and conditions can be passed onto the children of an individual with germline mosaicism, even if the mutation does not present in the individual’s phenotype or genotype.[2]-Many diseases are thought to be caused by de novo mutations, but now being examined for presence of Germline mosacism in the parents. Diseases such as collagen VI myopathy is an example of a condition that can be passed on by germline mosaicism. [3]Genetics 3595 Courtneywallingford (talk) 20:25, 15 October 2015 (UTC)
Courtneywallingford (talk) 20:19, 15 October 2015 (UTC)
- ^ Nussbuam, McInnes, Willard. Genetics In Medicine. Elsevier. pp. 123–125. ISBN 978-1-4377-0696-3.
{{cite book}}: CS1 maint: multiple names: authors list (link) - ^ Cho.; et al. (January/February 2015). "A Case Report of a Fetus with Mosaic Autosomal Variegated Aneuploidies and Literature Review". Ann Clin Lab Sci. 45: 106-109.
{{cite journal}}: Check date values in:|date=(help); Explicit use of et al. in:|last1=(help) - ^ Amaroli; et al. (2012). "Paternal germline mosaisicm in collagen VI related myopathies" (19): 534–536.
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Germline mosaicism, also called gonadal mosaicism, is a type of genetic mosaicism where more than one set of genetic information is found specifically within the gamete cells; conversely, somatic mosaicism is a type of genetic mosaicism found in somatic cells. Germline mosaicism can be present at the same time as somatic mosaicism or individually depending on when the conditions occur. Pure germline mosaicism refers to mosaicism found exclusively in the gametes and not in any somatic cells. Germline mosaicism can be caused either by a mutation that occurs after conception,[1][2] or by epigenetic regulation,[3] alterations to DNA such as methylation that do not involve changes in the DNA coding sequence.
A mutation in an allele acquired by a somatic cell early in its development can be passed on to its daughter cells, including those that later specialize to gametes. With such mutation within the gamete cells, a pair of medically typical individuals may have repeated succession of children who suffer from certain genetic disorders such as Duchenne muscular dystrophy and osteogenesis imperfecta because of germline mosaicism.[4] It is possible for parents unaffected by germline mutations to produce an offspring with an autosomal dominant (AD) disorder due to a random new mutation within one’s gamete cells known as sporadic mutation; however, if these parents produce more than one child with an AD disorder, germline mosaicism is more likely the cause than a sporadic mutation.[5] In the first documented case of its kind, two offspring of a French woman who had no phenotypic expression of the AD disorder, hypertrophic cardiomyopathy, inherited the disease.[6]
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- ^ Orva, Rosa; Orva, David (April 1998). "Germ line Mosaicism". Human Genetics. 102 (4): 381–6. doi:10.1007/s004390050708. PMID 9600231.
- ^ Nussbuam, McInnes, Willard. Genetics In Medicine. Elsevier. pp. 123–125. ISBN 978-1-4377-0696-3.
- ^ Laurentino, S.; Beygo, J.; Nordhoff, V.; Kliesch, S.; Wistuba, J.; Borgmann, J.; Buiting, K.; Horsthemke, B.; Gromoll, J. (21 October 2014). "Epigenetic germline mosaicism in infertile men". Human Molecular Genetics. 24 (5): 1295–1304. doi:10.1093/hmg/ddu540. PMID 25336341.
- ^ "Germline Mosaicism - an overview | ScienceDirect Topics". www.sciencedirect.com.
- ^ "Content". hihg.med.miami.edu.
- ^ Forissier, J. F.; Richard, P.; Briault, S.; Ledeuil, C.; Dubourg, O.; Charbonnier, B.; Carrier, L.; Moraine, C.; Bonne, G.; Komajda, M.; Schwartz, K.; Hainque, B. (2000). "First description of germline mosaicism in familial hypertrophic cardiomyopathy". Journal of Medical Genetics. pp. 132–134. doi:10.1136/jmg.37.2.132.